| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24081322_24081363del | CA2624298000 | NRL | c.587_628del (p.Ala196_Arg210delinsGly) c.170_211del (p.Ala57_Arg71delinsGly) c.686_727del (p.Ala229_Arg243delinsGly) c.371_412del (p.Ala124_Arg138delinsGly) c.272_313del (p.Ala91_Arg105delinsGly) c.893_934del (p.Ala298_Arg312delinsGly) c.578_619del (p.Ala193_Arg207delinsGly) | gnomAD v4 |
| 14 | g.24081335_24081376dup | CA10581692 | NRL | c.586_627dup (p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.169_210dup (p.Ala70_Arg71insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.685_726dup (p.Ala242_Arg243insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.370_411dup (p.Ala137_Arg138insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.271_312dup (p.Ala104_Arg105insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.892_933dup (p.Ala311_Arg312insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) c.577_618dup (p.Ala206_Arg207insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) | ClinVar dbSNP |
| 14 | g.24081335_24081376del | CA2624298015 | NRL | c.586_627del (p.Ala196_Ala209del) c.169_210del (p.Ala57_Ala70del) c.685_726del (p.Ala229_Ala242del) c.370_411del (p.Ala124_Ala137del) c.271_312del (p.Ala91_Ala104del) c.892_933del (p.Ala298_Ala311del) c.577_618del (p.Ala193_Ala206del) | gnomAD v4 |
| 14 | g.24081345_24081386del | CA2624298089 | NRL | c.571_612del (p.Arg191_Glu204del) c.154_195del (p.Arg52_Glu65del) c.670_711del (p.Arg224_Glu237del) c.355_396del (p.Arg119_Glu132del) c.256_297del (p.Arg86_Glu99del) c.877_918del (p.Arg293_Glu306del) c.562_603del (p.Arg188_Glu201del) | gnomAD v4 |
| 14 | g.24081340C>A | CA389276950 | NRL | c.610G>T (p.Glu204Ter) c.193G>T (p.Glu65Ter) c.709G>T (p.Glu237Ter) c.394G>T (p.Glu132Ter) c.295G>T (p.Glu99Ter) c.916G>T (p.Glu306Ter) c.601G>T (p.Glu201Ter) | gnomAD v4 |
| 14 | g.24081340C>G | CA389276955 | NRL | c.610G>C (p.Glu204Gln) c.193G>C (p.Glu65Gln) c.709G>C (p.Glu237Gln) c.394G>C (p.Glu132Gln) c.295G>C (p.Glu99Gln) c.916G>C (p.Glu306Gln) c.601G>C (p.Glu201Gln) | |
| 14 | g.24081340C>T | CA389276956 | NRL | c.610G>A (p.Glu204Lys) c.193G>A (p.Glu65Lys) c.709G>A (p.Glu237Lys) c.394G>A (p.Glu132Lys) c.295G>A (p.Glu99Lys) c.916G>A (p.Glu306Lys) c.601G>A (p.Glu201Lys) | gnomAD v4 COSMIC |
| 14 | g.24081341G>A | CA485775667 | NRL | c.609C>T (p.Ala203=) c.192C>T (p.Ala64=) c.708C>T (p.Ala236=) c.393C>T (p.Ala131=) c.294C>T (p.Ala98=) c.915C>T (p.Ala305=) c.600C>T (p.Ala200=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081341G>C | CA7122819 | NRL | c.609C>G (p.Ala203=) c.192C>G (p.Ala64=) c.708C>G (p.Ala236=) c.393C>G (p.Ala131=) c.294C>G (p.Ala98=) c.915C>G (p.Ala305=) c.600C>G (p.Ala200=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081341G= | CA2123777418 | NRL | c.609C= (p.Ala203=) c.192C= (p.Ala64=) c.708C= (p.Ala236=) c.393C= (p.Ala131=) c.294C= (p.Ala98=) c.915C= (p.Ala305=) c.600C= (p.Ala200=) | |
| 14 | g.24081341G>T | CA485775666 | NRL | c.609C>A (p.Ala203=) c.192C>A (p.Ala64=) c.708C>A (p.Ala236=) c.393C>A (p.Ala131=) c.294C>A (p.Ala98=) c.915C>A (p.Ala305=) c.600C>A (p.Ala200=) | gnomAD v4 |
| 14 | g.24081342G>A | CA389276962 | NRL | c.608C>T (p.Ala203Val) c.191C>T (p.Ala64Val) c.707C>T (p.Ala236Val) c.392C>T (p.Ala131Val) c.293C>T (p.Ala98Val) c.914C>T (p.Ala305Val) c.599C>T (p.Ala200Val) | gnomAD v4 |
| 14 | g.24081342G>C | CA389276964 | NRL | c.608C>G (p.Ala203Gly) c.191C>G (p.Ala64Gly) c.707C>G (p.Ala236Gly) c.392C>G (p.Ala131Gly) c.293C>G (p.Ala98Gly) c.914C>G (p.Ala305Gly) c.599C>G (p.Ala200Gly) | |
| 14 | g.24081342G>T | CA389276977 | NRL | c.608C>A (p.Ala203Asp) c.191C>A (p.Ala64Asp) c.707C>A (p.Ala236Asp) c.392C>A (p.Ala131Asp) c.293C>A (p.Ala98Asp) c.914C>A (p.Ala305Asp) c.599C>A (p.Ala200Asp) | gnomAD v4 |
| 14 | g.24081343C>A | CA389276998 | NRL | c.607G>T (p.Ala203Ser) c.190G>T (p.Ala64Ser) c.706G>T (p.Ala236Ser) c.391G>T (p.Ala131Ser) c.292G>T (p.Ala98Ser) c.913G>T (p.Ala305Ser) c.598G>T (p.Ala200Ser) | gnomAD v4 |
| 14 | g.24081343C= | CA2123777423 | NRL | c.607G= (p.Ala203=) c.190G= (p.Ala64=) c.706G= (p.Ala236=) c.391G= (p.Ala131=) c.292G= (p.Ala98=) c.913G= (p.Ala305=) c.598G= (p.Ala200=) | |
| 14 | g.24081343C>G | CA389276981 | NRL | c.607G>C (p.Ala203Pro) c.190G>C (p.Ala64Pro) c.706G>C (p.Ala236Pro) c.391G>C (p.Ala131Pro) c.292G>C (p.Ala98Pro) c.913G>C (p.Ala305Pro) c.598G>C (p.Ala200Pro) | |
| 14 | g.24081343C>T | CA257868064 | NRL | c.607G>A (p.Ala203Thr) c.190G>A (p.Ala64Thr) c.706G>A (p.Ala236Thr) c.391G>A (p.Ala131Thr) c.292G>A (p.Ala98Thr) c.913G>A (p.Ala305Thr) c.598G>A (p.Ala200Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081344C>A | CA485775670 | NRL | c.606G>T (p.Arg202=) c.189G>T (p.Arg63=) c.705G>T (p.Arg235=) c.390G>T (p.Arg130=) c.291G>T (p.Arg97=) c.912G>T (p.Arg304=) c.597G>T (p.Arg199=) | gnomAD v4 |
| 14 | g.24081344C= | CA2123777431 | NRL | c.606G= (p.Arg202=) c.189G= (p.Arg63=) c.705G= (p.Arg235=) c.390G= (p.Arg130=) c.291G= (p.Arg97=) c.912G= (p.Arg304=) c.597G= (p.Arg199=) | |
| 14 | g.24081344C>G | CA485775674 | NRL | c.606G>C (p.Arg202=) c.189G>C (p.Arg63=) c.705G>C (p.Arg235=) c.390G>C (p.Arg130=) c.291G>C (p.Arg97=) c.912G>C (p.Arg304=) c.597G>C (p.Arg199=) | |
| 14 | g.24081344C>T | CA485775672 | NRL | c.606G>A (p.Arg202=) c.189G>A (p.Arg63=) c.705G>A (p.Arg235=) c.390G>A (p.Arg130=) c.291G>A (p.Arg97=) c.912G>A (p.Arg304=) c.597G>A (p.Arg199=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081345C>A | CA389277014 | NRL | c.605G>T (p.Arg202Leu) c.188G>T (p.Arg63Leu) c.704G>T (p.Arg235Leu) c.389G>T (p.Arg130Leu) c.290G>T (p.Arg97Leu) c.911G>T (p.Arg304Leu) c.596G>T (p.Arg199Leu) | gnomAD v4 |
| 14 | g.24081345C= | CA2123777432 | NRL | c.605G= (p.Arg202=) c.188G= (p.Arg63=) c.704G= (p.Arg235=) c.389G= (p.Arg130=) c.290G= (p.Arg97=) c.911G= (p.Arg304=) c.596G= (p.Arg199=) | |
| 14 | g.24081345C>G | CA389277016 | NRL | c.605G>C (p.Arg202Pro) c.188G>C (p.Arg63Pro) c.704G>C (p.Arg235Pro) c.389G>C (p.Arg130Pro) c.290G>C (p.Arg97Pro) c.911G>C (p.Arg304Pro) c.596G>C (p.Arg199Pro) | |
| 14 | g.24081345C>T | CA257868065 | NRL | c.605G>A (p.Arg202Gln) c.188G>A (p.Arg63Gln) c.704G>A (p.Arg235Gln) c.389G>A (p.Arg130Gln) c.290G>A (p.Arg97Gln) c.911G>A (p.Arg304Gln) c.596G>A (p.Arg199Gln) | dbSNP gnomAD v4 |
| 14 | g.24081346G>A | CA389277023 | NRL | c.604C>T (p.Arg202Trp) c.187C>T (p.Arg63Trp) c.703C>T (p.Arg235Trp) c.388C>T (p.Arg130Trp) c.289C>T (p.Arg97Trp) c.910C>T (p.Arg304Trp) c.595C>T (p.Arg199Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081346G>C | CA389277030 | NRL | c.604C>G (p.Arg202Gly) c.187C>G (p.Arg63Gly) c.703C>G (p.Arg235Gly) c.388C>G (p.Arg130Gly) c.289C>G (p.Arg97Gly) c.910C>G (p.Arg304Gly) c.595C>G (p.Arg199Gly) | gnomAD v4 |
| 14 | g.24081346G= | CA2123777435 | NRL | c.604C= (p.Arg202=) c.187C= (p.Arg63=) c.703C= (p.Arg235=) c.388C= (p.Arg130=) c.289C= (p.Arg97=) c.910C= (p.Arg304=) c.595C= (p.Arg199=) | |
| 14 | g.24081346G>T | CA485775676 | NRL | c.604C>A (p.Arg202=) c.187C>A (p.Arg63=) c.703C>A (p.Arg235=) c.388C>A (p.Arg130=) c.289C>A (p.Arg97=) c.910C>A (p.Arg304=) c.595C>A (p.Arg199=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081347C>A | CA485775677 | NRL | c.603G>T (p.Leu201=) c.186G>T (p.Leu62=) c.702G>T (p.Leu234=) c.387G>T (p.Leu129=) c.288G>T (p.Leu96=) c.909G>T (p.Leu303=) c.594G>T (p.Leu198=) | gnomAD v4 |
| 14 | g.24081347C>G | CA485775678 | NRL | c.603G>C (p.Leu201=) c.186G>C (p.Leu62=) c.702G>C (p.Leu234=) c.387G>C (p.Leu129=) c.288G>C (p.Leu96=) c.909G>C (p.Leu303=) c.594G>C (p.Leu198=) | |
| 14 | g.24081347C>T | CA485775681 | NRL | c.603G>A (p.Leu201=) c.186G>A (p.Leu62=) c.702G>A (p.Leu234=) c.387G>A (p.Leu129=) c.288G>A (p.Leu96=) c.909G>A (p.Leu303=) c.594G>A (p.Leu198=) | gnomAD v4 |
| 14 | g.24081348A>C | CA389277041 | NRL | c.602T>G (p.Leu201Arg) c.185T>G (p.Leu62Arg) c.701T>G (p.Leu234Arg) c.386T>G (p.Leu129Arg) c.287T>G (p.Leu96Arg) c.908T>G (p.Leu303Arg) c.593T>G (p.Leu198Arg) | gnomAD v4 |
| 14 | g.24081348A>G | CA389277047 | NRL | c.602T>C (p.Leu201Pro) c.185T>C (p.Leu62Pro) c.701T>C (p.Leu234Pro) c.386T>C (p.Leu129Pro) c.287T>C (p.Leu96Pro) c.908T>C (p.Leu303Pro) c.593T>C (p.Leu198Pro) | gnomAD v4 |
| 14 | g.24081348A>T | CA389277060 | NRL | c.602T>A (p.Leu201Gln) c.185T>A (p.Leu62Gln) c.701T>A (p.Leu234Gln) c.386T>A (p.Leu129Gln) c.287T>A (p.Leu96Gln) c.908T>A (p.Leu303Gln) c.593T>A (p.Leu198Gln) | |
| 14 | g.24081349G>A | CA485775683 | NRL | c.601C>T (p.Leu201=) c.184C>T (p.Leu62=) c.700C>T (p.Leu234=) c.385C>T (p.Leu129=) c.286C>T (p.Leu96=) c.907C>T (p.Leu303=) c.592C>T (p.Leu198=) | gnomAD v4 |
| 14 | g.24081349G>C | CA389277066 | NRL | c.601C>G (p.Leu201Val) c.184C>G (p.Leu62Val) c.700C>G (p.Leu234Val) c.385C>G (p.Leu129Val) c.286C>G (p.Leu96Val) c.907C>G (p.Leu303Val) c.592C>G (p.Leu198Val) | |
| 14 | g.24081349G>T | CA389277067 | NRL | c.601C>A (p.Leu201Met) c.184C>A (p.Leu62Met) c.700C>A (p.Leu234Met) c.385C>A (p.Leu129Met) c.286C>A (p.Leu96Met) c.907C>A (p.Leu303Met) c.592C>A (p.Leu198Met) | gnomAD v4 |
| 14 | g.24081350C>A | CA485775686 | NRL | c.600G>T (p.Ala200=) c.183G>T (p.Ala61=) c.699G>T (p.Ala233=) c.384G>T (p.Ala128=) c.285G>T (p.Ala95=) c.906G>T (p.Ala302=) c.591G>T (p.Ala197=) | |
| 14 | g.24081350C>G | CA485775688 | NRL | c.600G>C (p.Ala200=) c.183G>C (p.Ala61=) c.699G>C (p.Ala233=) c.384G>C (p.Ala128=) c.285G>C (p.Ala95=) c.906G>C (p.Ala302=) c.591G>C (p.Ala197=) | |
| 14 | g.24081350C>T | CA485775689 | NRL | c.600G>A (p.Ala200=) c.183G>A (p.Ala61=) c.699G>A (p.Ala233=) c.384G>A (p.Ala128=) c.285G>A (p.Ala95=) c.906G>A (p.Ala302=) c.591G>A (p.Ala197=) | gnomAD v4 |
| 14 | g.24081351G>A | CA389277090 | NRL | c.599C>T (p.Ala200Val) c.182C>T (p.Ala61Val) c.698C>T (p.Ala233Val) c.383C>T (p.Ala128Val) c.284C>T (p.Ala95Val) c.905C>T (p.Ala302Val) c.590C>T (p.Ala197Val) | gnomAD v4 |
| 14 | g.24081351G>C | CA389277081 | NRL | c.599C>G (p.Ala200Gly) c.182C>G (p.Ala61Gly) c.698C>G (p.Ala233Gly) c.383C>G (p.Ala128Gly) c.284C>G (p.Ala95Gly) c.905C>G (p.Ala302Gly) c.590C>G (p.Ala197Gly) | |
| 14 | g.24081351G>T | CA389277076 | NRL | c.599C>A (p.Ala200Glu) c.182C>A (p.Ala61Glu) c.698C>A (p.Ala233Glu) c.383C>A (p.Ala128Glu) c.284C>A (p.Ala95Glu) c.905C>A (p.Ala302Glu) c.590C>A (p.Ala197Glu) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081352C>A | CA389277095 | NRL | c.598G>T (p.Ala200Ser) c.181G>T (p.Ala61Ser) c.697G>T (p.Ala233Ser) c.382G>T (p.Ala128Ser) c.283G>T (p.Ala95Ser) c.904G>T (p.Ala302Ser) c.589G>T (p.Ala197Ser) | gnomAD v4 |
| 14 | g.24081352C= | CA2123777438 | NRL | c.598G= (p.Ala200=) c.181G= (p.Ala61=) c.697G= (p.Ala233=) c.382G= (p.Ala128=) c.283G= (p.Ala95=) c.904G= (p.Ala302=) c.589G= (p.Ala197=) | |
| 14 | g.24081352C>G | CA389277105 | NRL | c.598G>C (p.Ala200Pro) c.181G>C (p.Ala61Pro) c.697G>C (p.Ala233Pro) c.382G>C (p.Ala128Pro) c.283G>C (p.Ala95Pro) c.904G>C (p.Ala302Pro) c.589G>C (p.Ala197Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081352C>T | CA389277108 | NRL | c.598G>A (p.Ala200Thr) c.181G>A (p.Ala61Thr) c.697G>A (p.Ala233Thr) c.382G>A (p.Ala128Thr) c.283G>A (p.Ala95Thr) c.904G>A (p.Ala302Thr) c.589G>A (p.Ala197Thr) | |
| 14 | g.24081353G>A | CA485775695 | NRL | c.597C>T (p.Asp199=) c.180C>T (p.Asp60=) c.696C>T (p.Asp232=) c.381C>T (p.Asp127=) c.282C>T (p.Asp94=) c.903C>T (p.Asp301=) c.588C>T (p.Asp196=) | gnomAD v4 |
| 14 | g.24081353G>C | CA257868066 | NRL | c.597C>G (p.Asp199Glu) c.180C>G (p.Asp60Glu) c.696C>G (p.Asp232Glu) c.381C>G (p.Asp127Glu) c.282C>G (p.Asp94Glu) c.903C>G (p.Asp301Glu) c.588C>G (p.Asp196Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081353G= | CA2123777445 | NRL | c.597C= (p.Asp199=) c.180C= (p.Asp60=) c.696C= (p.Asp232=) c.381C= (p.Asp127=) c.282C= (p.Asp94=) c.903C= (p.Asp301=) c.588C= (p.Asp196=) | |
| 14 | g.24081353G>T | CA389277124 | NRL | c.597C>A (p.Asp199Glu) c.180C>A (p.Asp60Glu) c.696C>A (p.Asp232Glu) c.381C>A (p.Asp127Glu) c.282C>A (p.Asp94Glu) c.903C>A (p.Asp301Glu) c.588C>A (p.Asp196Glu) | gnomAD v4 |
| 14 | g.24081354T>A | CA389277128 | NRL | c.596A>T (p.Asp199Val) c.179A>T (p.Asp60Val) c.695A>T (p.Asp232Val) c.380A>T (p.Asp127Val) c.281A>T (p.Asp94Val) c.902A>T (p.Asp301Val) c.587A>T (p.Asp196Val) | |
| 14 | g.24081354T>C | CA389277130 | NRL | c.596A>G (p.Asp199Gly) c.179A>G (p.Asp60Gly) c.695A>G (p.Asp232Gly) c.380A>G (p.Asp127Gly) c.281A>G (p.Asp94Gly) c.902A>G (p.Asp301Gly) c.587A>G (p.Asp196Gly) | gnomAD v4 |
| 14 | g.24081354T>G | CA389277132 | NRL | c.596A>C (p.Asp199Ala) c.179A>C (p.Asp60Ala) c.695A>C (p.Asp232Ala) c.380A>C (p.Asp127Ala) c.281A>C (p.Asp94Ala) c.902A>C (p.Asp301Ala) c.587A>C (p.Asp196Ala) | |
| 14 | g.24081355C>A | CA389277136 | NRL | c.595G>T (p.Asp199Tyr) c.178G>T (p.Asp60Tyr) c.694G>T (p.Asp232Tyr) c.379G>T (p.Asp127Tyr) c.280G>T (p.Asp94Tyr) c.901G>T (p.Asp301Tyr) c.586G>T (p.Asp196Tyr) | |
| 14 | g.24081355C>G | CA389277141 | NRL | c.595G>C (p.Asp199His) c.178G>C (p.Asp60His) c.694G>C (p.Asp232His) c.379G>C (p.Asp127His) c.280G>C (p.Asp94His) c.901G>C (p.Asp301His) c.586G>C (p.Asp196His) | |
| 14 | g.24081355C>T | CA389277145 | NRL | c.595G>A (p.Asp199Asn) c.178G>A (p.Asp60Asn) c.694G>A (p.Asp232Asn) c.379G>A (p.Asp127Asn) c.280G>A (p.Asp94Asn) c.901G>A (p.Asp301Asn) c.586G>A (p.Asp196Asn) | |
| 14 | g.24081356C>A | CA485775700 | NRL | c.594G>T (p.Leu198=) c.177G>T (p.Leu59=) c.693G>T (p.Leu231=) c.378G>T (p.Leu126=) c.279G>T (p.Leu93=) c.900G>T (p.Leu300=) c.585G>T (p.Leu195=) | gnomAD v4 |
| 14 | g.24081356C>G | CA485775702 | NRL | c.594G>C (p.Leu198=) c.177G>C (p.Leu59=) c.693G>C (p.Leu231=) c.378G>C (p.Leu126=) c.279G>C (p.Leu93=) c.900G>C (p.Leu300=) c.585G>C (p.Leu195=) | |
| 14 | g.24081356C>T | CA485775703 | NRL | c.594G>A (p.Leu198=) c.177G>A (p.Leu59=) c.693G>A (p.Leu231=) c.378G>A (p.Leu126=) c.279G>A (p.Leu93=) c.900G>A (p.Leu300=) c.585G>A (p.Leu195=) | gnomAD v4 |
| 14 | g.24081357A= | CA2123777450 | NRL | c.593T= (p.Leu198=) c.176T= (p.Leu59=) c.692T= (p.Leu231=) c.377T= (p.Leu126=) c.278T= (p.Leu93=) c.899T= (p.Leu300=) c.584T= (p.Leu195=) | |
| 14 | g.24081357A>C | CA389277150 | NRL | c.593T>G (p.Leu198Arg) c.176T>G (p.Leu59Arg) c.692T>G (p.Leu231Arg) c.377T>G (p.Leu126Arg) c.278T>G (p.Leu93Arg) c.899T>G (p.Leu300Arg) c.584T>G (p.Leu195Arg) | |
| 14 | g.24081357A>G | CA257868067 | NRL | c.593T>C (p.Leu198Pro) c.176T>C (p.Leu59Pro) c.692T>C (p.Leu231Pro) c.377T>C (p.Leu126Pro) c.278T>C (p.Leu93Pro) c.899T>C (p.Leu300Pro) c.584T>C (p.Leu195Pro) | dbSNP gnomAD v4 |
| 14 | g.24081357A>T | CA389277149 | NRL | c.593T>A (p.Leu198Gln) c.176T>A (p.Leu59Gln) c.692T>A (p.Leu231Gln) c.377T>A (p.Leu126Gln) c.278T>A (p.Leu93Gln) c.899T>A (p.Leu300Gln) c.584T>A (p.Leu195Gln) | |
| 14 | g.24081358G>A | CA485775705 | NRL | c.592C>T (p.Leu198=) c.175C>T (p.Leu59=) c.691C>T (p.Leu231=) c.376C>T (p.Leu126=) c.277C>T (p.Leu93=) c.898C>T (p.Leu300=) c.583C>T (p.Leu195=) | gnomAD v4 |
| 14 | g.24081358G>C | CA389277155 | NRL | c.592C>G (p.Leu198Val) c.175C>G (p.Leu59Val) c.691C>G (p.Leu231Val) c.376C>G (p.Leu126Val) c.277C>G (p.Leu93Val) c.898C>G (p.Leu300Val) c.583C>G (p.Leu195Val) | |
| 14 | g.24081358G>T | CA389277158 | NRL | c.592C>A (p.Leu198Met) c.175C>A (p.Leu59Met) c.691C>A (p.Leu231Met) c.376C>A (p.Leu126Met) c.277C>A (p.Leu93Met) c.898C>A (p.Leu300Met) c.583C>A (p.Leu195Met) | |
| 14 | g.24081359C>A | CA389277165 | NRL | c.591G>T (p.Gln197His) c.174G>T (p.Gln58His) c.690G>T (p.Gln230His) c.375G>T (p.Gln125His) c.276G>T (p.Gln92His) c.897G>T (p.Gln299His) c.582G>T (p.Gln194His) | gnomAD v4 |
| 14 | g.24081359C= | CA2123777453 | NRL | c.591G= (p.Gln197=) c.174G= (p.Gln58=) c.690G= (p.Gln230=) c.375G= (p.Gln125=) c.276G= (p.Gln92=) c.897G= (p.Gln299=) c.582G= (p.Gln194=) | |
| 14 | g.24081359C>G | CA389277169 | NRL | c.591G>C (p.Gln197His) c.174G>C (p.Gln58His) c.690G>C (p.Gln230His) c.375G>C (p.Gln125His) c.276G>C (p.Gln92His) c.897G>C (p.Gln299His) c.582G>C (p.Gln194His) | dbSNP |
| 14 | g.24081359C>T | CA485775706 | NRL | c.591G>A (p.Gln197=) c.174G>A (p.Gln58=) c.690G>A (p.Gln230=) c.375G>A (p.Gln125=) c.276G>A (p.Gln92=) c.897G>A (p.Gln299=) c.582G>A (p.Gln194=) | gnomAD v4 |
| 14 | g.24081360T>A | CA389277174 | NRL | c.590A>T (p.Gln197Leu) c.173A>T (p.Gln58Leu) c.689A>T (p.Gln230Leu) c.374A>T (p.Gln125Leu) c.275A>T (p.Gln92Leu) c.896A>T (p.Gln299Leu) c.581A>T (p.Gln194Leu) | |
| 14 | g.24081360T>C | CA389277183 | NRL | c.590A>G (p.Gln197Arg) c.173A>G (p.Gln58Arg) c.689A>G (p.Gln230Arg) c.374A>G (p.Gln125Arg) c.275A>G (p.Gln92Arg) c.896A>G (p.Gln299Arg) c.581A>G (p.Gln194Arg) | gnomAD v4 |
| 14 | g.24081360T>G | CA389277188 | NRL | c.590A>C (p.Gln197Pro) c.173A>C (p.Gln58Pro) c.689A>C (p.Gln230Pro) c.374A>C (p.Gln125Pro) c.275A>C (p.Gln92Pro) c.896A>C (p.Gln299Pro) c.581A>C (p.Gln194Pro) | |
| 14 | g.24081361G>A | CA389277193 | NRL | c.589C>T (p.Gln197Ter) c.172C>T (p.Gln58Ter) c.688C>T (p.Gln230Ter) c.373C>T (p.Gln125Ter) c.274C>T (p.Gln92Ter) c.895C>T (p.Gln299Ter) c.580C>T (p.Gln194Ter) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081361G>C | CA389277194 | NRL | c.589C>G (p.Gln197Glu) c.172C>G (p.Gln58Glu) c.688C>G (p.Gln230Glu) c.373C>G (p.Gln125Glu) c.274C>G (p.Gln92Glu) c.895C>G (p.Gln299Glu) c.580C>G (p.Gln194Glu) | |
| 14 | g.24081361G= | CA2123777456 | NRL | c.589C= (p.Gln197=) c.172C= (p.Gln58=) c.688C= (p.Gln230=) c.373C= (p.Gln125=) c.274C= (p.Gln92=) c.895C= (p.Gln299=) c.580C= (p.Gln194=) | |
| 14 | g.24081361G>T | CA389277196 | NRL | c.589C>A (p.Gln197Lys) c.172C>A (p.Gln58Lys) c.688C>A (p.Gln230Lys) c.373C>A (p.Gln125Lys) c.274C>A (p.Gln92Lys) c.895C>A (p.Gln299Lys) c.580C>A (p.Gln194Lys) | |
| 14 | g.24081363del | CA2624298179 | NRL | c.589del (p.Gln197SerfsTer26) c.172del (p.Gln58SerfsTer26) c.688del (p.Gln230SerfsTer26) c.373del (p.Gln125SerfsTer26) c.274del (p.Gln92SerfsTer26) c.895del (p.Gln299SerfsTer26) c.580del (p.Gln194SerfsTer26) | gnomAD v4 |
| 14 | g.24081362G>A | CA485775708 | NRL | c.588C>T (p.Ala196=) c.171C>T (p.Ala57=) c.687C>T (p.Ala229=) c.372C>T (p.Ala124=) c.273C>T (p.Ala91=) c.894C>T (p.Ala298=) c.579C>T (p.Ala193=) | gnomAD v4 |
| 14 | g.24081362G>C | CA485775709 | NRL | c.588C>G (p.Ala196=) c.171C>G (p.Ala57=) c.687C>G (p.Ala229=) c.372C>G (p.Ala124=) c.273C>G (p.Ala91=) c.894C>G (p.Ala298=) c.579C>G (p.Ala193=) | |
| 14 | g.24081362G>T | CA485775711 | NRL | c.588C>A (p.Ala196=) c.171C>A (p.Ala57=) c.687C>A (p.Ala229=) c.372C>A (p.Ala124=) c.273C>A (p.Ala91=) c.894C>A (p.Ala298=) c.579C>A (p.Ala193=) | gnomAD v4 |
| 14 | g.24081363G>A | CA389277198 | NRL | c.587C>T (p.Ala196Val) c.170C>T (p.Ala57Val) c.686C>T (p.Ala229Val) c.371C>T (p.Ala124Val) c.272C>T (p.Ala91Val) c.893C>T (p.Ala298Val) c.578C>T (p.Ala193Val) | gnomAD v4 |
| 14 | g.24081363G>C | CA389277201 | NRL | c.587C>G (p.Ala196Gly) c.170C>G (p.Ala57Gly) c.686C>G (p.Ala229Gly) c.371C>G (p.Ala124Gly) c.272C>G (p.Ala91Gly) c.893C>G (p.Ala298Gly) c.578C>G (p.Ala193Gly) | |
| 14 | g.24081363G>T | CA389277203 | NRL | c.587C>A (p.Ala196Asp) c.170C>A (p.Ala57Asp) c.686C>A (p.Ala229Asp) c.371C>A (p.Ala124Asp) c.272C>A (p.Ala91Asp) c.893C>A (p.Ala298Asp) c.578C>A (p.Ala193Asp) | gnomAD v4 |
| 14 | g.24081364C>A | CA389277209 | NRL | c.586G>T (p.Ala196Ser) c.169G>T (p.Ala57Ser) c.685G>T (p.Ala229Ser) c.370G>T (p.Ala124Ser) c.271G>T (p.Ala91Ser) c.892G>T (p.Ala298Ser) c.577G>T (p.Ala193Ser) | gnomAD v4 |
| 14 | g.24081364C= | CA2123777459 | NRL | c.586G= (p.Ala196=) c.169G= (p.Ala57=) c.685G= (p.Ala229=) c.370G= (p.Ala124=) c.271G= (p.Ala91=) c.892G= (p.Ala298=) c.577G= (p.Ala193=) | |
| 14 | g.24081364C>G | CA389277210 | NRL | c.586G>C (p.Ala196Pro) c.169G>C (p.Ala57Pro) c.685G>C (p.Ala229Pro) c.370G>C (p.Ala124Pro) c.271G>C (p.Ala91Pro) c.892G>C (p.Ala298Pro) c.577G>C (p.Ala193Pro) | |
| 14 | g.24081364C>T | CA389277208 | NRL | c.586G>A (p.Ala196Thr) c.169G>A (p.Ala57Thr) c.685G>A (p.Ala229Thr) c.370G>A (p.Ala124Thr) c.271G>A (p.Ala91Thr) c.892G>A (p.Ala298Thr) c.577G>A (p.Ala193Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081365G>A | CA485775713 | NRL | c.585C>T (p.Ala195=) c.168C>T (p.Ala56=) c.684C>T (p.Ala228=) c.369C>T (p.Ala123=) c.270C>T (p.Ala90=) c.891C>T (p.Ala297=) c.576C>T (p.Ala192=) | gnomAD v4 |
| 14 | g.24081365G>C | CA7122820 | NRL | c.585C>G (p.Ala195=) c.168C>G (p.Ala56=) c.684C>G (p.Ala228=) c.369C>G (p.Ala123=) c.270C>G (p.Ala90=) c.891C>G (p.Ala297=) c.576C>G (p.Ala192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081365G= | CA2123777462 | NRL | c.585C= (p.Ala195=) c.168C= (p.Ala56=) c.684C= (p.Ala228=) c.369C= (p.Ala123=) c.270C= (p.Ala90=) c.891C= (p.Ala297=) c.576C= (p.Ala192=) | |
| 14 | g.24081365G>T | CA485775714 | NRL | c.585C>A (p.Ala195=) c.168C>A (p.Ala56=) c.684C>A (p.Ala228=) c.369C>A (p.Ala123=) c.270C>A (p.Ala90=) c.891C>A (p.Ala297=) c.576C>A (p.Ala192=) | gnomAD v4 |
| 14 | g.24081366dup | CA2624298191 | NRL | c.585dup (p.Ala196ArgfsTer25) c.168dup (p.Ala57ArgfsTer25) c.684dup (p.Ala229ArgfsTer25) c.369dup (p.Ala124ArgfsTer25) c.270dup (p.Ala91ArgfsTer25) c.891dup (p.Ala298ArgfsTer25) c.576dup (p.Ala193ArgfsTer25) | gnomAD v4 |
| 14 | g.24081366G>A | CA389277215 | NRL | c.584C>T (p.Ala195Val) c.167C>T (p.Ala56Val) c.683C>T (p.Ala228Val) c.368C>T (p.Ala123Val) c.269C>T (p.Ala90Val) c.890C>T (p.Ala297Val) c.575C>T (p.Ala192Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081366G>C | CA389277220 | NRL | c.584C>G (p.Ala195Gly) c.167C>G (p.Ala56Gly) c.683C>G (p.Ala228Gly) c.368C>G (p.Ala123Gly) c.269C>G (p.Ala90Gly) c.890C>G (p.Ala297Gly) c.575C>G (p.Ala192Gly) | |
| 14 | g.24081366G= | CA2123777465 | NRL | c.584C= (p.Ala195=) c.167C= (p.Ala56=) c.683C= (p.Ala228=) c.368C= (p.Ala123=) c.269C= (p.Ala90=) c.890C= (p.Ala297=) c.575C= (p.Ala192=) | |
| 14 | g.24081366G>T | CA389277218 | NRL | c.584C>A (p.Ala195Asp) c.167C>A (p.Ala56Asp) c.683C>A (p.Ala228Asp) c.368C>A (p.Ala123Asp) c.269C>A (p.Ala90Asp) c.890C>A (p.Ala297Asp) c.575C>A (p.Ala192Asp) | gnomAD v4 |
| 14 | g.24081367C>A | CA389277226 | NRL | c.583G>T (p.Ala195Ser) c.166G>T (p.Ala56Ser) c.682G>T (p.Ala228Ser) c.367G>T (p.Ala123Ser) c.268G>T (p.Ala90Ser) c.889G>T (p.Ala297Ser) c.574G>T (p.Ala192Ser) | gnomAD v4 |
| 14 | g.24081367C>G | CA389277227 | NRL | c.583G>C (p.Ala195Pro) c.166G>C (p.Ala56Pro) c.682G>C (p.Ala228Pro) c.367G>C (p.Ala123Pro) c.268G>C (p.Ala90Pro) c.889G>C (p.Ala297Pro) c.574G>C (p.Ala192Pro) | |
| 14 | g.24081367C>T | CA389277228 | NRL | c.583G>A (p.Ala195Thr) c.166G>A (p.Ala56Thr) c.682G>A (p.Ala228Thr) c.367G>A (p.Ala123Thr) c.268G>A (p.Ala90Thr) c.889G>A (p.Ala297Thr) c.574G>A (p.Ala192Thr) | gnomAD v4 |
| 14 | g.24081368del | CA2624298201 | NRL | c.583del (p.Ala195ProfsTer28) c.166del (p.Ala56ProfsTer28) c.682del (p.Ala228ProfsTer28) c.367del (p.Ala123ProfsTer28) c.268del (p.Ala90ProfsTer28) c.889del (p.Ala297ProfsTer28) c.574del (p.Ala192ProfsTer28) | gnomAD v4 |
| 14 | g.24081368C>A | CA485775716 | NRL | c.582G>T (p.Leu194=) c.165G>T (p.Leu55=) c.681G>T (p.Leu227=) c.366G>T (p.Leu122=) c.267G>T (p.Leu89=) c.888G>T (p.Leu296=) c.573G>T (p.Leu191=) | gnomAD v4 |
| 14 | g.24081368C>G | CA485775717 | NRL | c.582G>C (p.Leu194=) c.165G>C (p.Leu55=) c.681G>C (p.Leu227=) c.366G>C (p.Leu122=) c.267G>C (p.Leu89=) c.888G>C (p.Leu296=) c.573G>C (p.Leu191=) | |
| 14 | g.24081368C>T | CA485775718 | NRL | c.582G>A (p.Leu194=) c.165G>A (p.Leu55=) c.681G>A (p.Leu227=) c.366G>A (p.Leu122=) c.267G>A (p.Leu89=) c.888G>A (p.Leu296=) c.573G>A (p.Leu191=) | gnomAD v4 |
| 14 | g.24081369A= | CA2123777467 | NRL | c.581T= (p.Leu194=) c.164T= (p.Leu55=) c.680T= (p.Leu227=) c.365T= (p.Leu122=) c.266T= (p.Leu89=) c.887T= (p.Leu296=) c.572T= (p.Leu191=) | |
| 14 | g.24081369A>C | CA389277233 | NRL | c.581T>G (p.Leu194Arg) c.164T>G (p.Leu55Arg) c.680T>G (p.Leu227Arg) c.365T>G (p.Leu122Arg) c.266T>G (p.Leu89Arg) c.887T>G (p.Leu296Arg) c.572T>G (p.Leu191Arg) | |
| 14 | g.24081369A>G | CA257868070 | NRL | c.581T>C (p.Leu194Pro) c.164T>C (p.Leu55Pro) c.680T>C (p.Leu227Pro) c.365T>C (p.Leu122Pro) c.266T>C (p.Leu89Pro) c.887T>C (p.Leu296Pro) c.572T>C (p.Leu191Pro) | dbSNP |
| 14 | g.24081369A>T | CA389277246 | NRL | c.581T>A (p.Leu194Gln) c.164T>A (p.Leu55Gln) c.680T>A (p.Leu227Gln) c.365T>A (p.Leu122Gln) c.266T>A (p.Leu89Gln) c.887T>A (p.Leu296Gln) c.572T>A (p.Leu191Gln) | gnomAD v4 |
| 14 | g.24081370G>A | CA485775721 | NRL | c.580C>T (p.Leu194=) c.163C>T (p.Leu55=) c.679C>T (p.Leu227=) c.364C>T (p.Leu122=) c.265C>T (p.Leu89=) c.886C>T (p.Leu296=) c.571C>T (p.Leu191=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081370G>C | CA389277252 | NRL | c.580C>G (p.Leu194Val) c.163C>G (p.Leu55Val) c.679C>G (p.Leu227Val) c.364C>G (p.Leu122Val) c.265C>G (p.Leu89Val) c.886C>G (p.Leu296Val) c.571C>G (p.Leu191Val) | |
| 14 | g.24081370G= | CA2123777470 | NRL | c.580C= (p.Leu194=) c.163C= (p.Leu55=) c.679C= (p.Leu227=) c.364C= (p.Leu122=) c.265C= (p.Leu89=) c.886C= (p.Leu296=) c.571C= (p.Leu191=) | |
| 14 | g.24081370G>T | CA389277257 | NRL | c.580C>A (p.Leu194Met) c.163C>A (p.Leu55Met) c.679C>A (p.Leu227Met) c.364C>A (p.Leu122Met) c.265C>A (p.Leu89Met) c.886C>A (p.Leu296Met) c.571C>A (p.Leu191Met) | |
| 14 | g.24081370_24081389dup | CA2624298208 | NRL | c.561_580dup (p.Leu194ArgfsTer36) c.144_163dup (p.Leu55ArgfsTer36) c.660_679dup (p.Leu227ArgfsTer36) c.345_364dup (p.Leu122ArgfsTer36) c.246_265dup (p.Leu89ArgfsTer36) c.867_886dup (p.Leu296ArgfsTer36) c.552_571dup (p.Leu191ArgfsTer36) | gnomAD v4 |
| 14 | g.24081371G>A | CA485775722 | NRL | c.579C>T (p.Arg193=) c.162C>T (p.Arg54=) c.678C>T (p.Arg226=) c.363C>T (p.Arg121=) c.264C>T (p.Arg88=) c.885C>T (p.Arg295=) c.570C>T (p.Arg190=) | dbSNP gnomAD v4 |
| 14 | g.24081371G>C | CA485775723 | NRL | c.579C>G (p.Arg193=) c.162C>G (p.Arg54=) c.678C>G (p.Arg226=) c.363C>G (p.Arg121=) c.264C>G (p.Arg88=) c.885C>G (p.Arg295=) c.570C>G (p.Arg190=) | |
| 14 | g.24081371G>T | CA485775724 | NRL | c.579C>A (p.Arg193=) c.162C>A (p.Arg54=) c.678C>A (p.Arg226=) c.363C>A (p.Arg121=) c.264C>A (p.Arg88=) c.885C>A (p.Arg295=) c.570C>A (p.Arg190=) | gnomAD v4 |
| 14 | g.24081372del | CA2624298220 | NRL | c.578del (p.Arg193ProfsTer30) c.161del (p.Arg54ProfsTer30) c.677del (p.Arg226ProfsTer30) c.362del (p.Arg121ProfsTer30) c.263del (p.Arg88ProfsTer30) c.884del (p.Arg295ProfsTer30) c.569del (p.Arg190ProfsTer30) | gnomAD v4 |
| 14 | g.24081372C>A | CA389277266 | NRL | c.578G>T (p.Arg193Leu) c.161G>T (p.Arg54Leu) c.677G>T (p.Arg226Leu) c.362G>T (p.Arg121Leu) c.263G>T (p.Arg88Leu) c.884G>T (p.Arg295Leu) c.569G>T (p.Arg190Leu) | gnomAD v4 |
| 14 | g.24081372C= | CA2123777475 | NRL | c.578G= (p.Arg193=) c.161G= (p.Arg54=) c.677G= (p.Arg226=) c.362G= (p.Arg121=) c.263G= (p.Arg88=) c.884G= (p.Arg295=) c.569G= (p.Arg190=) | |
| 14 | g.24081372C>G | CA389277291 | NRL | c.578G>C (p.Arg193Pro) c.161G>C (p.Arg54Pro) c.677G>C (p.Arg226Pro) c.362G>C (p.Arg121Pro) c.263G>C (p.Arg88Pro) c.884G>C (p.Arg295Pro) c.569G>C (p.Arg190Pro) | |
| 14 | g.24081372C>T | CA389277305 | NRL | c.578G>A (p.Arg193His) c.161G>A (p.Arg54His) c.677G>A (p.Arg226His) c.362G>A (p.Arg121His) c.263G>A (p.Arg88His) c.884G>A (p.Arg295His) c.569G>A (p.Arg190His) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081373G>A | CA7122821 | NRL | c.577C>T (p.Arg193Cys) c.160C>T (p.Arg54Cys) c.676C>T (p.Arg226Cys) c.361C>T (p.Arg121Cys) c.262C>T (p.Arg88Cys) c.883C>T (p.Arg295Cys) c.568C>T (p.Arg190Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081373G>C | CA389277314 | NRL | c.577C>G (p.Arg193Gly) c.160C>G (p.Arg54Gly) c.676C>G (p.Arg226Gly) c.361C>G (p.Arg121Gly) c.262C>G (p.Arg88Gly) c.883C>G (p.Arg295Gly) c.568C>G (p.Arg190Gly) | |
| 14 | g.24081373G= | CA2123777483 | NRL | c.577C= (p.Arg193=) c.160C= (p.Arg54=) c.676C= (p.Arg226=) c.361C= (p.Arg121=) c.262C= (p.Arg88=) c.883C= (p.Arg295=) c.568C= (p.Arg190=) | |
| 14 | g.24081373G>T | CA389277310 | NRL | c.577C>A (p.Arg193Ser) c.160C>A (p.Arg54Ser) c.676C>A (p.Arg226Ser) c.361C>A (p.Arg121Ser) c.262C>A (p.Arg88Ser) c.883C>A (p.Arg295Ser) c.568C>A (p.Arg190Ser) | gnomAD v4 |
| 14 | g.24081374G>A | CA485775730 | NRL | c.576C>T (p.Ala192=) c.159C>T (p.Ala53=) c.675C>T (p.Ala225=) c.360C>T (p.Ala120=) c.261C>T (p.Ala87=) c.882C>T (p.Ala294=) c.567C>T (p.Ala189=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081374G>C | CA485775731 | NRL | c.576C>G (p.Ala192=) c.159C>G (p.Ala53=) c.675C>G (p.Ala225=) c.360C>G (p.Ala120=) c.261C>G (p.Ala87=) c.882C>G (p.Ala294=) c.567C>G (p.Ala189=) | |
| 14 | g.24081374G= | CA2123777492 | NRL | c.576C= (p.Ala192=) c.159C= (p.Ala53=) c.675C= (p.Ala225=) c.360C= (p.Ala120=) c.261C= (p.Ala87=) c.882C= (p.Ala294=) c.567C= (p.Ala189=) | |
| 14 | g.24081374G>T | CA485775732 | NRL | c.576C>A (p.Ala192=) c.159C>A (p.Ala53=) c.675C>A (p.Ala225=) c.360C>A (p.Ala120=) c.261C>A (p.Ala87=) c.882C>A (p.Ala294=) c.567C>A (p.Ala189=) | gnomAD v4 |
| 14 | g.24081375G>A | CA389277324 | NRL | c.575C>T (p.Ala192Val) c.158C>T (p.Ala53Val) c.674C>T (p.Ala225Val) c.359C>T (p.Ala120Val) c.260C>T (p.Ala87Val) c.881C>T (p.Ala294Val) c.566C>T (p.Ala189Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081375G>C | CA389277329 | NRL | c.575C>G (p.Ala192Gly) c.158C>G (p.Ala53Gly) c.674C>G (p.Ala225Gly) c.359C>G (p.Ala120Gly) c.260C>G (p.Ala87Gly) c.881C>G (p.Ala294Gly) c.566C>G (p.Ala189Gly) | gnomAD v4 |
| 14 | g.24081375G= | CA2123777498 | NRL | c.575C= (p.Ala192=) c.158C= (p.Ala53=) c.674C= (p.Ala225=) c.359C= (p.Ala120=) c.260C= (p.Ala87=) c.881C= (p.Ala294=) c.566C= (p.Ala189=) | |
| 14 | g.24081375G>T | CA389277331 | NRL | c.575C>A (p.Ala192Asp) c.158C>A (p.Ala53Asp) c.674C>A (p.Ala225Asp) c.359C>A (p.Ala120Asp) c.260C>A (p.Ala87Asp) c.881C>A (p.Ala294Asp) c.566C>A (p.Ala189Asp) | |
| 14 | g.24081376C>A | CA389277337 | NRL | c.574G>T (p.Ala192Ser) c.157G>T (p.Ala53Ser) c.673G>T (p.Ala225Ser) c.358G>T (p.Ala120Ser) c.259G>T (p.Ala87Ser) c.880G>T (p.Ala294Ser) c.565G>T (p.Ala189Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081376C= | CA2123777507 | NRL | c.574G= (p.Ala192=) c.157G= (p.Ala53=) c.673G= (p.Ala225=) c.358G= (p.Ala120=) c.259G= (p.Ala87=) c.880G= (p.Ala294=) c.565G= (p.Ala189=) | |
| 14 | g.24081376C>G | CA389277343 | NRL | c.574G>C (p.Ala192Pro) c.157G>C (p.Ala53Pro) c.673G>C (p.Ala225Pro) c.358G>C (p.Ala120Pro) c.259G>C (p.Ala87Pro) c.880G>C (p.Ala294Pro) c.565G>C (p.Ala189Pro) | gnomAD v4 |
| 14 | g.24081376C>T | CA257868073 | NRL | c.574G>A (p.Ala192Thr) c.157G>A (p.Ala53Thr) c.673G>A (p.Ala225Thr) c.358G>A (p.Ala120Thr) c.259G>A (p.Ala87Thr) c.880G>A (p.Ala294Thr) c.565G>A (p.Ala189Thr) | dbSNP gnomAD v4 |
| 14 | g.24081377G>A | CA485775736 | NRL | c.573C>T (p.Arg191=) c.156C>T (p.Arg52=) c.672C>T (p.Arg224=) c.357C>T (p.Arg119=) c.258C>T (p.Arg86=) c.879C>T (p.Arg293=) c.564C>T (p.Arg188=) | gnomAD v4 |
| 14 | g.24081377G>C | CA485775737 | NRL | c.573C>G (p.Arg191=) c.156C>G (p.Arg52=) c.672C>G (p.Arg224=) c.357C>G (p.Arg119=) c.258C>G (p.Arg86=) c.879C>G (p.Arg293=) c.564C>G (p.Arg188=) | |
| 14 | g.24081377G>T | CA485775738 | NRL | c.573C>A (p.Arg191=) c.156C>A (p.Arg52=) c.672C>A (p.Arg224=) c.357C>A (p.Arg119=) c.258C>A (p.Arg86=) c.879C>A (p.Arg293=) c.564C>A (p.Arg188=) | |
| 14 | g.24081378C>A | CA389277345 | NRL | c.572G>T (p.Arg191Leu) c.155G>T (p.Arg52Leu) c.671G>T (p.Arg224Leu) c.356G>T (p.Arg119Leu) c.257G>T (p.Arg86Leu) c.878G>T (p.Arg293Leu) c.563G>T (p.Arg188Leu) | gnomAD v4 |
| 14 | g.24081378C>G | CA389277356 | NRL | c.572G>C (p.Arg191Pro) c.155G>C (p.Arg52Pro) c.671G>C (p.Arg224Pro) c.356G>C (p.Arg119Pro) c.257G>C (p.Arg86Pro) c.878G>C (p.Arg293Pro) c.563G>C (p.Arg188Pro) | |
| 14 | g.24081378C>T | CA389277360 | NRL | c.572G>A (p.Arg191His) c.155G>A (p.Arg52His) c.671G>A (p.Arg224His) c.356G>A (p.Arg119His) c.257G>A (p.Arg86His) c.878G>A (p.Arg293His) c.563G>A (p.Arg188His) | gnomAD v4 |
| 14 | g.24081378_24081379insCCCACGGT | CA2624298250 | NRL | c.571_572insACCGTGGG (p.Arg191HisfsTer?) c.154_155insACCGTGGG (p.Arg52HisfsTer?) c.670_671insACCGTGGG (p.Arg224HisfsTer?) c.355_356insACCGTGGG (p.Arg119HisfsTer?) c.256_257insACCGTGGG (p.Arg86HisfsTer?) c.877_878insACCGTGGG (p.Arg293HisfsTer?) c.562_563insACCGTGGG (p.Arg188HisfsTer?) | gnomAD v4 |
| 14 | g.24081379G>A | CA389277363 | NRL | c.571C>T (p.Arg191Cys) c.154C>T (p.Arg52Cys) c.670C>T (p.Arg224Cys) c.355C>T (p.Arg119Cys) c.256C>T (p.Arg86Cys) c.877C>T (p.Arg293Cys) c.562C>T (p.Arg188Cys) | gnomAD v4 |
| 14 | g.24081379G>C | CA389277368 | NRL | c.571C>G (p.Arg191Gly) c.154C>G (p.Arg52Gly) c.670C>G (p.Arg224Gly) c.355C>G (p.Arg119Gly) c.256C>G (p.Arg86Gly) c.877C>G (p.Arg293Gly) c.562C>G (p.Arg188Gly) | |
| 14 | g.24081379G>T | CA389277370 | NRL | c.571C>A (p.Arg191Ser) c.154C>A (p.Arg52Ser) c.670C>A (p.Arg224Ser) c.355C>A (p.Arg119Ser) c.256C>A (p.Arg86Ser) c.877C>A (p.Arg293Ser) c.562C>A (p.Arg188Ser) | gnomAD v4 |
| 14 | g.24081380C>A | CA389277373 | NRL | c.570G>T (p.Glu190Asp) c.153G>T (p.Glu51Asp) c.669G>T (p.Glu223Asp) c.354G>T (p.Glu118Asp) c.255G>T (p.Glu85Asp) c.876G>T (p.Glu292Asp) c.561G>T (p.Glu187Asp) | gnomAD v4 |
| 14 | g.24081380C>G | CA389277372 | NRL | c.570G>C (p.Glu190Asp) c.153G>C (p.Glu51Asp) c.669G>C (p.Glu223Asp) c.354G>C (p.Glu118Asp) c.255G>C (p.Glu85Asp) c.876G>C (p.Glu292Asp) c.561G>C (p.Glu187Asp) | gnomAD v4 |
| 14 | g.24081380C>T | CA485775743 | NRL | c.570G>A (p.Glu190=) c.153G>A (p.Glu51=) c.669G>A (p.Glu223=) c.354G>A (p.Glu118=) c.255G>A (p.Glu85=) c.876G>A (p.Glu292=) c.561G>A (p.Glu187=) | |
| 14 | g.24081381T>A | CA389277374 | NRL | c.569A>T (p.Glu190Val) c.152A>T (p.Glu51Val) c.668A>T (p.Glu223Val) c.353A>T (p.Glu118Val) c.254A>T (p.Glu85Val) c.875A>T (p.Glu292Val) c.560A>T (p.Glu187Val) | gnomAD v4 |
| 14 | g.24081381T>C | CA389277378 | NRL | c.569A>G (p.Glu190Gly) c.152A>G (p.Glu51Gly) c.668A>G (p.Glu223Gly) c.353A>G (p.Glu118Gly) c.254A>G (p.Glu85Gly) c.875A>G (p.Glu292Gly) c.560A>G (p.Glu187Gly) | dbSNP gnomAD v4 |
| 14 | g.24081381T>G | CA389277385 | NRL | c.569A>C (p.Glu190Ala) c.152A>C (p.Glu51Ala) c.668A>C (p.Glu223Ala) c.353A>C (p.Glu118Ala) c.254A>C (p.Glu85Ala) c.875A>C (p.Glu292Ala) c.560A>C (p.Glu187Ala) | |
| 14 | g.24081382C>A | CA389277390 | NRL | c.568G>T (p.Glu190Ter) c.151G>T (p.Glu51Ter) c.667G>T (p.Glu223Ter) c.352G>T (p.Glu118Ter) c.253G>T (p.Glu85Ter) c.874G>T (p.Glu292Ter) c.559G>T (p.Glu187Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081382C= | CA2123777511 | NRL | c.568G= (p.Glu190=) c.151G= (p.Glu51=) c.667G= (p.Glu223=) c.352G= (p.Glu118=) c.253G= (p.Glu85=) c.874G= (p.Glu292=) c.559G= (p.Glu187=) | |
| 14 | g.24081382C>G | CA389277401 | NRL | c.568G>C (p.Glu190Gln) c.151G>C (p.Glu51Gln) c.667G>C (p.Glu223Gln) c.352G>C (p.Glu118Gln) c.253G>C (p.Glu85Gln) c.874G>C (p.Glu292Gln) c.559G>C (p.Glu187Gln) | gnomAD v4 |
| 14 | g.24081382C>T | CA389277402 | NRL | c.568G>A (p.Glu190Lys) c.151G>A (p.Glu51Lys) c.667G>A (p.Glu223Lys) c.352G>A (p.Glu118Lys) c.253G>A (p.Glu85Lys) c.874G>A (p.Glu292Lys) c.559G>A (p.Glu187Lys) | gnomAD v4 |
| 14 | g.24081383G>A | CA485775750 | NRL | c.567C>T (p.Ala189=) c.150C>T (p.Ala50=) c.666C>T (p.Ala222=) c.351C>T (p.Ala117=) c.252C>T (p.Ala84=) c.873C>T (p.Ala291=) c.558C>T (p.Ala186=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081383G>C | CA485775748 | NRL | c.567C>G (p.Ala189=) c.150C>G (p.Ala50=) c.666C>G (p.Ala222=) c.351C>G (p.Ala117=) c.252C>G (p.Ala84=) c.873C>G (p.Ala291=) c.558C>G (p.Ala186=) | dbSNP gnomAD v4 |
| 14 | g.24081383G= | CA2123777518 | NRL | c.567C= (p.Ala189=) c.150C= (p.Ala50=) c.666C= (p.Ala222=) c.351C= (p.Ala117=) c.252C= (p.Ala84=) c.873C= (p.Ala291=) c.558C= (p.Ala186=) | |
| 14 | g.24081383G>T | CA485775749 | NRL | c.567C>A (p.Ala189=) c.150C>A (p.Ala50=) c.666C>A (p.Ala222=) c.351C>A (p.Ala117=) c.252C>A (p.Ala84=) c.873C>A (p.Ala291=) c.558C>A (p.Ala186=) | gnomAD v4 |
| 14 | g.24081384dup | CA2573149788 | NRL | c.567dup (p.Glu190ArgfsTer?) c.150dup (p.Glu51ArgfsTer?) c.666dup (p.Glu223ArgfsTer?) c.351dup (p.Glu118ArgfsTer?) c.252dup (p.Glu85ArgfsTer?) c.873dup (p.Glu292ArgfsTer?) c.558dup (p.Glu187ArgfsTer?) | ClinVar dbSNP |
| 14 | g.24081384G>A | CA389277407 | NRL | c.566C>T (p.Ala189Val) c.149C>T (p.Ala50Val) c.665C>T (p.Ala222Val) c.350C>T (p.Ala117Val) c.251C>T (p.Ala84Val) c.872C>T (p.Ala291Val) c.557C>T (p.Ala186Val) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081384G>C | CA389277403 | NRL | c.566C>G (p.Ala189Gly) c.149C>G (p.Ala50Gly) c.665C>G (p.Ala222Gly) c.350C>G (p.Ala117Gly) c.251C>G (p.Ala84Gly) c.872C>G (p.Ala291Gly) c.557C>G (p.Ala186Gly) | gnomAD v4 |
| 14 | g.24081384G= | CA2123777525 | NRL | c.566C= (p.Ala189=) c.149C= (p.Ala50=) c.665C= (p.Ala222=) c.350C= (p.Ala117=) c.251C= (p.Ala84=) c.872C= (p.Ala291=) c.557C= (p.Ala186=) | |
| 14 | g.24081384G>T | CA389277404 | NRL | c.566C>A (p.Ala189Asp) c.149C>A (p.Ala50Asp) c.665C>A (p.Ala222Asp) c.350C>A (p.Ala117Asp) c.251C>A (p.Ala84Asp) c.872C>A (p.Ala291Asp) c.557C>A (p.Ala186Asp) | gnomAD v4 |
| 14 | g.24081385C>A | CA389277411 | NRL | c.565G>T (p.Ala189Ser) c.148G>T (p.Ala50Ser) c.664G>T (p.Ala222Ser) c.349G>T (p.Ala117Ser) c.250G>T (p.Ala84Ser) c.871G>T (p.Ala291Ser) c.556G>T (p.Ala186Ser) | gnomAD v4 |
| 14 | g.24081385C>G | CA389277420 | NRL | c.565G>C (p.Ala189Pro) c.148G>C (p.Ala50Pro) c.664G>C (p.Ala222Pro) c.349G>C (p.Ala117Pro) c.250G>C (p.Ala84Pro) c.871G>C (p.Ala291Pro) c.556G>C (p.Ala186Pro) | |
| 14 | g.24081385C>T | CA389277422 | NRL | c.565G>A (p.Ala189Thr) c.148G>A (p.Ala50Thr) c.664G>A (p.Ala222Thr) c.349G>A (p.Ala117Thr) c.250G>A (p.Ala84Thr) c.871G>A (p.Ala291Thr) c.556G>A (p.Ala186Thr) | ClinVar gnomAD v4 |
| 14 | g.24081386C>A | CA257868074 | NRL | c.564G>T (p.Glu188Asp) c.147G>T (p.Glu49Asp) c.663G>T (p.Glu221Asp) c.348G>T (p.Glu116Asp) c.249G>T (p.Glu83Asp) c.870G>T (p.Glu290Asp) c.555G>T (p.Glu185Asp) | dbSNP gnomAD v4 |
| 14 | g.24081386C= | CA2123777530 | NRL | c.564G= (p.Glu188=) c.147G= (p.Glu49=) c.663G= (p.Glu221=) c.348G= (p.Glu116=) c.249G= (p.Glu83=) c.870G= (p.Glu290=) c.555G= (p.Glu185=) | |
| 14 | g.24081386C>G | CA389277425 | NRL | c.564G>C (p.Glu188Asp) c.147G>C (p.Glu49Asp) c.663G>C (p.Glu221Asp) c.348G>C (p.Glu116Asp) c.249G>C (p.Glu83Asp) c.870G>C (p.Glu290Asp) c.555G>C (p.Glu185Asp) | |
| 14 | g.24081386C>T | CA485775757 | NRL | c.564G>A (p.Glu188=) c.147G>A (p.Glu49=) c.663G>A (p.Glu221=) c.348G>A (p.Glu116=) c.249G>A (p.Glu83=) c.870G>A (p.Glu290=) c.555G>A (p.Glu185=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081387T>A | CA389277427 | NRL | c.563A>T (p.Glu188Val) c.146A>T (p.Glu49Val) c.662A>T (p.Glu221Val) c.347A>T (p.Glu116Val) c.248A>T (p.Glu83Val) c.869A>T (p.Glu290Val) c.554A>T (p.Glu185Val) | |
| 14 | g.24081387T>C | CA389277437 | NRL | c.563A>G (p.Glu188Gly) c.146A>G (p.Glu49Gly) c.662A>G (p.Glu221Gly) c.347A>G (p.Glu116Gly) c.248A>G (p.Glu83Gly) c.869A>G (p.Glu290Gly) c.554A>G (p.Glu185Gly) | dbSNP |
| 14 | g.24081387T>G | CA257868075 | NRL | c.563A>C (p.Glu188Ala) c.146A>C (p.Glu49Ala) c.662A>C (p.Glu221Ala) c.347A>C (p.Glu116Ala) c.248A>C (p.Glu83Ala) c.869A>C (p.Glu290Ala) c.554A>C (p.Glu185Ala) | dbSNP gnomAD v4 |
| 14 | g.24081387T= | CA2123777538 | NRL | c.563A= (p.Glu188=) c.146A= (p.Glu49=) c.662A= (p.Glu221=) c.347A= (p.Glu116=) c.248A= (p.Glu83=) c.869A= (p.Glu290=) c.554A= (p.Glu185=) | |
| 14 | g.24081388C>A | CA389277440 | NRL | c.562G>T (p.Glu188Ter) c.145G>T (p.Glu49Ter) c.661G>T (p.Glu221Ter) c.346G>T (p.Glu116Ter) c.247G>T (p.Glu83Ter) c.868G>T (p.Glu290Ter) c.553G>T (p.Glu185Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081388C= | CA2123777542 | NRL | c.562G= (p.Glu188=) c.145G= (p.Glu49=) c.661G= (p.Glu221=) c.346G= (p.Glu116=) c.247G= (p.Glu83=) c.868G= (p.Glu290=) c.553G= (p.Glu185=) | |
| 14 | g.24081388C>G | CA389277441 | NRL | c.562G>C (p.Glu188Gln) c.145G>C (p.Glu49Gln) c.661G>C (p.Glu221Gln) c.346G>C (p.Glu116Gln) c.247G>C (p.Glu83Gln) c.868G>C (p.Glu290Gln) c.553G>C (p.Glu185Gln) | |
| 14 | g.24081388C>T | CA389277442 | NRL | c.562G>A (p.Glu188Lys) c.145G>A (p.Glu49Lys) c.661G>A (p.Glu221Lys) c.346G>A (p.Glu116Lys) c.247G>A (p.Glu83Lys) c.868G>A (p.Glu290Lys) c.553G>A (p.Glu185Lys) | |
| 14 | g.24081388_24081389insA | CA613319061 | NRL | c.561_562insT (p.Glu188Ter) c.144_145insT (p.Glu49Ter) c.660_661insT (p.Glu221Ter) c.345_346insT (p.Glu116Ter) c.246_247insT (p.Glu83Ter) c.867_868insT (p.Glu290Ter) c.552_553insT (p.Glu185Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081389C>A | CA485775765 | NRL | c.561G>T (p.Leu187=) c.144G>T (p.Leu48=) c.660G>T (p.Leu220=) c.345G>T (p.Leu115=) c.246G>T (p.Leu82=) c.867G>T (p.Leu289=) c.552G>T (p.Leu184=) | gnomAD v4 |
| 14 | g.24081389C>G | CA485775766 | NRL | c.561G>C (p.Leu187=) c.144G>C (p.Leu48=) c.660G>C (p.Leu220=) c.345G>C (p.Leu115=) c.246G>C (p.Leu82=) c.867G>C (p.Leu289=) c.552G>C (p.Leu184=) | |
| 14 | g.24081389C>T | CA485775767 | NRL | c.561G>A (p.Leu187=) c.144G>A (p.Leu48=) c.660G>A (p.Leu220=) c.345G>A (p.Leu115=) c.246G>A (p.Leu82=) c.867G>A (p.Leu289=) c.552G>A (p.Leu184=) | gnomAD v4 |
| 14 | g.24081390A= | CA2123777549 | NRL | c.560T= (p.Leu187=) c.143T= (p.Leu48=) c.659T= (p.Leu220=) c.344T= (p.Leu115=) c.245T= (p.Leu82=) c.866T= (p.Leu289=) c.551T= (p.Leu184=) | |
| 14 | g.24081390A>C | CA389277443 | NRL | c.560T>G (p.Leu187Arg) c.143T>G (p.Leu48Arg) c.659T>G (p.Leu220Arg) c.344T>G (p.Leu115Arg) c.245T>G (p.Leu82Arg) c.866T>G (p.Leu289Arg) c.551T>G (p.Leu184Arg) | |
| 14 | g.24081390A>G | CA389277444 | NRL | c.560T>C (p.Leu187Pro) c.143T>C (p.Leu48Pro) c.659T>C (p.Leu220Pro) c.344T>C (p.Leu115Pro) c.245T>C (p.Leu82Pro) c.866T>C (p.Leu289Pro) c.551T>C (p.Leu184Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081390A>T | CA389277455 | NRL | c.560T>A (p.Leu187Gln) c.143T>A (p.Leu48Gln) c.659T>A (p.Leu220Gln) c.344T>A (p.Leu115Gln) c.245T>A (p.Leu82Gln) c.866T>A (p.Leu289Gln) c.551T>A (p.Leu184Gln) | |
| 14 | g.24081391G>A | CA485775768 | NRL | c.559C>T (p.Leu187=) c.142C>T (p.Leu48=) c.658C>T (p.Leu220=) c.343C>T (p.Leu115=) c.244C>T (p.Leu82=) c.865C>T (p.Leu289=) c.550C>T (p.Leu184=) | |
| 14 | g.24081391G>C | CA389277469 | NRL | c.559C>G (p.Leu187Val) c.142C>G (p.Leu48Val) c.658C>G (p.Leu220Val) c.343C>G (p.Leu115Val) c.244C>G (p.Leu82Val) c.865C>G (p.Leu289Val) c.550C>G (p.Leu184Val) | |
| 14 | g.24081391G= | CA2123777552 | NRL | c.559C= (p.Leu187=) c.142C= (p.Leu48=) c.658C= (p.Leu220=) c.343C= (p.Leu115=) c.244C= (p.Leu82=) c.865C= (p.Leu289=) c.550C= (p.Leu184=) | |
| 14 | g.24081391G>T | CA257868076 | NRL | c.559C>A (p.Leu187Met) c.142C>A (p.Leu48Met) c.658C>A (p.Leu220Met) c.343C>A (p.Leu115Met) c.244C>A (p.Leu82Met) c.865C>A (p.Leu289Met) c.550C>A (p.Leu184Met) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081392C>A | CA485775775 | NRL | c.558G>T (p.Gly186=) c.141G>T (p.Gly47=) c.657G>T (p.Gly219=) c.342G>T (p.Gly114=) c.243G>T (p.Gly81=) c.864G>T (p.Gly288=) c.549G>T (p.Gly183=) | gnomAD v4 |
| 14 | g.24081392C>G | CA485775776 | NRL | c.558G>C (p.Gly186=) c.141G>C (p.Gly47=) c.657G>C (p.Gly219=) c.342G>C (p.Gly114=) c.243G>C (p.Gly81=) c.864G>C (p.Gly288=) c.549G>C (p.Gly183=) | |
| 14 | g.24081392C>T | CA485775777 | NRL | c.558G>A (p.Gly186=) c.141G>A (p.Gly47=) c.657G>A (p.Gly219=) c.342G>A (p.Gly114=) c.243G>A (p.Gly81=) c.864G>A (p.Gly288=) c.549G>A (p.Gly183=) | |
| 14 | g.24081393C>A | CA389277474 | NRL | c.557G>T (p.Gly186Val) c.140G>T (p.Gly47Val) c.656G>T (p.Gly219Val) c.341G>T (p.Gly114Val) c.242G>T (p.Gly81Val) c.863G>T (p.Gly288Val) c.548G>T (p.Gly183Val) | gnomAD v4 |
| 14 | g.24081393C>G | CA389277479 | NRL | c.557G>C (p.Gly186Ala) c.140G>C (p.Gly47Ala) c.656G>C (p.Gly219Ala) c.341G>C (p.Gly114Ala) c.242G>C (p.Gly81Ala) c.863G>C (p.Gly288Ala) c.548G>C (p.Gly183Ala) | |
| 14 | g.24081393C>T | CA389277480 | NRL | c.557G>A (p.Gly186Glu) c.140G>A (p.Gly47Glu) c.656G>A (p.Gly219Glu) c.341G>A (p.Gly114Glu) c.242G>A (p.Gly81Glu) c.863G>A (p.Gly288Glu) c.548G>A (p.Gly183Glu) | gnomAD v4 |
| 14 | g.24081394C>A | CA389277498 | NRL | c.556G>T (p.Gly186Trp) c.139G>T (p.Gly47Trp) c.655G>T (p.Gly219Trp) c.340G>T (p.Gly114Trp) c.241G>T (p.Gly81Trp) c.862G>T (p.Gly288Trp) c.547G>T (p.Gly183Trp) | gnomAD v4 |
| 14 | g.24081394C= | CA2123777556 | NRL | c.556G= (p.Gly186=) c.139G= (p.Gly47=) c.655G= (p.Gly219=) c.340G= (p.Gly114=) c.241G= (p.Gly81=) c.862G= (p.Gly288=) c.547G= (p.Gly183=) | |
| 14 | g.24081394C>G | CA389277494 | NRL | c.556G>C (p.Gly186Arg) c.139G>C (p.Gly47Arg) c.655G>C (p.Gly219Arg) c.340G>C (p.Gly114Arg) c.241G>C (p.Gly81Arg) c.862G>C (p.Gly288Arg) c.547G>C (p.Gly183Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081394C>T | CA389277487 | NRL | c.556G>A (p.Gly186Arg) c.139G>A (p.Gly47Arg) c.655G>A (p.Gly219Arg) c.340G>A (p.Gly114Arg) c.241G>A (p.Gly81Arg) c.862G>A (p.Gly288Arg) c.547G>A (p.Gly183Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081395G>A | CA485775782 | NRL | c.555C>T (p.Arg185=) c.138C>T (p.Arg46=) c.654C>T (p.Arg218=) c.339C>T (p.Arg113=) c.240C>T (p.Arg80=) c.861C>T (p.Arg287=) c.546C>T (p.Arg182=) | gnomAD v4 |
| 14 | g.24081395G>C | CA485775784 | NRL | c.555C>G (p.Arg185=) c.138C>G (p.Arg46=) c.654C>G (p.Arg218=) c.339C>G (p.Arg113=) c.240C>G (p.Arg80=) c.861C>G (p.Arg287=) c.546C>G (p.Arg182=) | gnomAD v4 |
| 14 | g.24081395G>T | CA485775786 | NRL | c.555C>A (p.Arg185=) c.138C>A (p.Arg46=) c.654C>A (p.Arg218=) c.339C>A (p.Arg113=) c.240C>A (p.Arg80=) c.861C>A (p.Arg287=) c.546C>A (p.Arg182=) | |
| 14 | g.24081396C>A | CA389277499 | NRL | c.554G>T (p.Arg185Leu) c.137G>T (p.Arg46Leu) c.653G>T (p.Arg218Leu) c.338G>T (p.Arg113Leu) c.239G>T (p.Arg80Leu) c.860G>T (p.Arg287Leu) c.545G>T (p.Arg182Leu) | |
| 14 | g.24081396C>G | CA389277504 | NRL | c.554G>C (p.Arg185Pro) c.137G>C (p.Arg46Pro) c.653G>C (p.Arg218Pro) c.338G>C (p.Arg113Pro) c.239G>C (p.Arg80Pro) c.860G>C (p.Arg287Pro) c.545G>C (p.Arg182Pro) | |
| 14 | g.24081396C>T | CA389277500 | NRL | c.554G>A (p.Arg185His) c.137G>A (p.Arg46His) c.653G>A (p.Arg218His) c.338G>A (p.Arg113His) c.239G>A (p.Arg80His) c.860G>A (p.Arg287His) c.545G>A (p.Arg182His) | gnomAD v4 |
| 14 | g.24081397G>A | CA389277512 | NRL | c.553C>T (p.Arg185Cys) c.136C>T (p.Arg46Cys) c.652C>T (p.Arg218Cys) c.337C>T (p.Arg113Cys) c.238C>T (p.Arg80Cys) c.859C>T (p.Arg287Cys) c.544C>T (p.Arg182Cys) | dbSNP gnomAD v4 |
| 14 | g.24081397G>C | CA389277515 | NRL | c.553C>G (p.Arg185Gly) c.136C>G (p.Arg46Gly) c.652C>G (p.Arg218Gly) c.337C>G (p.Arg113Gly) c.238C>G (p.Arg80Gly) c.859C>G (p.Arg287Gly) c.544C>G (p.Arg182Gly) | dbSNP gnomAD v4 |
| 14 | g.24081397G= | CA2123777563 | NRL | c.553C= (p.Arg185=) c.136C= (p.Arg46=) c.652C= (p.Arg218=) c.337C= (p.Arg113=) c.238C= (p.Arg80=) c.859C= (p.Arg287=) c.544C= (p.Arg182=) | |
| 14 | g.24081397G>T | CA389277516 | NRL | c.553C>A (p.Arg185Ser) c.136C>A (p.Arg46Ser) c.652C>A (p.Arg218Ser) c.337C>A (p.Arg113Ser) c.238C>A (p.Arg80Ser) c.859C>A (p.Arg287Ser) c.544C>A (p.Arg182Ser) | gnomAD v4 |
| 14 | g.24081398C>A | CA485775792 | NRL | c.552G>T (p.Arg184=) c.135G>T (p.Arg45=) c.651G>T (p.Arg217=) c.336G>T (p.Arg112=) c.237G>T (p.Arg79=) c.858G>T (p.Arg286=) c.543G>T (p.Arg181=) | gnomAD v4 |
| 14 | g.24081398C>G | CA485775794 | NRL | c.552G>C (p.Arg184=) c.135G>C (p.Arg45=) c.651G>C (p.Arg217=) c.336G>C (p.Arg112=) c.237G>C (p.Arg79=) c.858G>C (p.Arg286=) c.543G>C (p.Arg181=) | |
| 14 | g.24081398C>T | CA485775795 | NRL | c.552G>A (p.Arg184=) c.135G>A (p.Arg45=) c.651G>A (p.Arg217=) c.336G>A (p.Arg112=) c.237G>A (p.Arg79=) c.858G>A (p.Arg286=) c.543G>A (p.Arg181=) | gnomAD v4 |
| 14 | g.24081399C>A | CA389277517 | NRL | c.551G>T (p.Arg184Leu) c.134G>T (p.Arg45Leu) c.650G>T (p.Arg217Leu) c.335G>T (p.Arg112Leu) c.236G>T (p.Arg79Leu) c.857G>T (p.Arg286Leu) c.542G>T (p.Arg181Leu) | |
| 14 | g.24081399C>G | CA389277518 | NRL | c.551G>C (p.Arg184Pro) c.134G>C (p.Arg45Pro) c.650G>C (p.Arg217Pro) c.335G>C (p.Arg112Pro) c.236G>C (p.Arg79Pro) c.857G>C (p.Arg286Pro) c.542G>C (p.Arg181Pro) | |
| 14 | g.24081399C>T | CA389277519 | NRL | c.551G>A (p.Arg184Gln) c.134G>A (p.Arg45Gln) c.650G>A (p.Arg217Gln) c.335G>A (p.Arg112Gln) c.236G>A (p.Arg79Gln) c.857G>A (p.Arg286Gln) c.542G>A (p.Arg181Gln) | gnomAD v4 |
| 14 | g.24081400G>A | CA389277520 | NRL | c.550C>T (p.Arg184Trp) c.133C>T (p.Arg45Trp) c.649C>T (p.Arg217Trp) c.334C>T (p.Arg112Trp) c.235C>T (p.Arg79Trp) c.856C>T (p.Arg286Trp) c.541C>T (p.Arg181Trp) | gnomAD v4 |
| 14 | g.24081400G>C | CA389277525 | NRL | c.550C>G (p.Arg184Gly) c.133C>G (p.Arg45Gly) c.649C>G (p.Arg217Gly) c.334C>G (p.Arg112Gly) c.235C>G (p.Arg79Gly) c.856C>G (p.Arg286Gly) c.541C>G (p.Arg181Gly) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081400G= | CA2123777568 | NRL | c.550C= (p.Arg184=) c.133C= (p.Arg45=) c.649C= (p.Arg217=) c.334C= (p.Arg112=) c.235C= (p.Arg79=) c.856C= (p.Arg286=) c.541C= (p.Arg181=) | |
| 14 | g.24081400G>T | CA485775799 | NRL | c.550C>A (p.Arg184=) c.133C>A (p.Arg45=) c.649C>A (p.Arg217=) c.334C>A (p.Arg112=) c.235C>A (p.Arg79=) c.856C>A (p.Arg286=) c.541C>A (p.Arg181=) | gnomAD v4 |
| 14 | g.24081401C>A | CA389277530 | NRL | c.549G>T (p.Gln183His) c.132G>T (p.Gln44His) c.648G>T (p.Gln216His) c.333G>T (p.Gln111His) c.234G>T (p.Gln78His) c.855G>T (p.Gln285His) c.540G>T (p.Gln180His) | |
| 14 | g.24081401C= | CA2123777571 | NRL | c.549G= (p.Gln183=) c.132G= (p.Gln44=) c.648G= (p.Gln216=) c.333G= (p.Gln111=) c.234G= (p.Gln78=) c.855G= (p.Gln285=) c.540G= (p.Gln180=) | |
| 14 | g.24081401C>G | CA389277535 | NRL | c.549G>C (p.Gln183His) c.132G>C (p.Gln44His) c.648G>C (p.Gln216His) c.333G>C (p.Gln111His) c.234G>C (p.Gln78His) c.855G>C (p.Gln285His) c.540G>C (p.Gln180His) | |
| 14 | g.24081401C>T | CA485775802 | NRL | c.549G>A (p.Gln183=) c.132G>A (p.Gln44=) c.648G>A (p.Gln216=) c.333G>A (p.Gln111=) c.234G>A (p.Gln78=) c.855G>A (p.Gln285=) c.540G>A (p.Gln180=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081402T>A | CA389277536 | NRL | c.548A>T (p.Gln183Leu) c.131A>T (p.Gln44Leu) c.647A>T (p.Gln216Leu) c.332A>T (p.Gln111Leu) c.233A>T (p.Gln78Leu) c.854A>T (p.Gln285Leu) c.539A>T (p.Gln180Leu) | |
| 14 | g.24081402T>C | CA389277539 | NRL | c.548A>G (p.Gln183Arg) c.131A>G (p.Gln44Arg) c.647A>G (p.Gln216Arg) c.332A>G (p.Gln111Arg) c.233A>G (p.Gln78Arg) c.854A>G (p.Gln285Arg) c.539A>G (p.Gln180Arg) | gnomAD v4 |
| 14 | g.24081402T>G | CA389277550 | NRL | c.548A>C (p.Gln183Pro) c.131A>C (p.Gln44Pro) c.647A>C (p.Gln216Pro) c.332A>C (p.Gln111Pro) c.233A>C (p.Gln78Pro) c.854A>C (p.Gln285Pro) c.539A>C (p.Gln180Pro) | |
| 14 | g.24081403G>A | CA389277555 | NRL | c.547C>T (p.Gln183Ter) c.130C>T (p.Gln44Ter) c.646C>T (p.Gln216Ter) c.331C>T (p.Gln111Ter) c.232C>T (p.Gln78Ter) c.853C>T (p.Gln285Ter) c.538C>T (p.Gln180Ter) | gnomAD v4 |
| 14 | g.24081403G>C | CA389277564 | NRL | c.547C>G (p.Gln183Glu) c.130C>G (p.Gln44Glu) c.646C>G (p.Gln216Glu) c.331C>G (p.Gln111Glu) c.232C>G (p.Gln78Glu) c.853C>G (p.Gln285Glu) c.538C>G (p.Gln180Glu) | |
| 14 | g.24081403G>T | CA389277556 | NRL | c.547C>A (p.Gln183Lys) c.130C>A (p.Gln44Lys) c.646C>A (p.Gln216Lys) c.331C>A (p.Gln111Lys) c.232C>A (p.Gln78Lys) c.853C>A (p.Gln285Lys) c.538C>A (p.Gln180Lys) | gnomAD v4 |
| 14 | g.24081404C>A | CA389277570 | NRL | c.546G>T (p.Gln182His) c.129G>T (p.Gln43His) c.645G>T (p.Gln215His) c.330G>T (p.Gln110His) c.231G>T (p.Gln77His) c.852G>T (p.Gln284His) c.537G>T (p.Gln179His) | gnomAD v4 |
| 14 | g.24081404C>G | CA389277578 | NRL | c.546G>C (p.Gln182His) c.129G>C (p.Gln43His) c.645G>C (p.Gln215His) c.330G>C (p.Gln110His) c.231G>C (p.Gln77His) c.852G>C (p.Gln284His) c.537G>C (p.Gln179His) | gnomAD v4 |
| 14 | g.24081404C>T | CA485775808 | NRL | c.546G>A (p.Gln182=) c.129G>A (p.Gln43=) c.645G>A (p.Gln215=) c.330G>A (p.Gln110=) c.231G>A (p.Gln77=) c.852G>A (p.Gln284=) c.537G>A (p.Gln179=) | gnomAD v4 |
| 14 | g.24081405T>A | CA389277589 | NRL | c.545A>T (p.Gln182Leu) c.128A>T (p.Gln43Leu) c.644A>T (p.Gln215Leu) c.329A>T (p.Gln110Leu) c.230A>T (p.Gln77Leu) c.851A>T (p.Gln284Leu) c.536A>T (p.Gln179Leu) | |
| 14 | g.24081405T>C | CA389277594 | NRL | c.545A>G (p.Gln182Arg) c.128A>G (p.Gln43Arg) c.644A>G (p.Gln215Arg) c.329A>G (p.Gln110Arg) c.230A>G (p.Gln77Arg) c.851A>G (p.Gln284Arg) c.536A>G (p.Gln179Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081405T>G | CA389277600 | NRL | c.545A>C (p.Gln182Pro) c.128A>C (p.Gln43Pro) c.644A>C (p.Gln215Pro) c.329A>C (p.Gln110Pro) c.230A>C (p.Gln77Pro) c.851A>C (p.Gln284Pro) c.536A>C (p.Gln179Pro) | |
| 14 | g.24081405T= | CA2123777575 | NRL | c.545A= (p.Gln182=) c.128A= (p.Gln43=) c.644A= (p.Gln215=) c.329A= (p.Gln110=) c.230A= (p.Gln77=) c.851A= (p.Gln284=) c.536A= (p.Gln179=) | |
| 14 | g.24081405_24081433delinsTGCAGCCGCTTGGAGCGACAGGCCTGCGC | CA2123777577 | NRL | c.517_545delinsGCGCAGGCCTGTCGCTCCAAGCGGCTGCA (p.Ala173=) c.100_128delinsGCGCAGGCCTGTCGCTCCAAGCGGCTGCA (p.Ala34=) c.616_644delinsGCGCAGGCCTGTCGCTCCAAGCGGCTGCA (p.Ala206=) c.301_329delinsGCGCAGGCCTGTCGCTCCAAGCGGCTGCA (p.Ala101=) c.202_230delinsGCGCAGGCCTGTCGCTCCAAGCGGCTGCA (p.Ala68=) c.823_851delinsGCGCAGGCCTGTCGCTCCAAGCGGCTGCA (p.Ala275=) c.508_536delinsGCGCAGGCCTGTCGCTCCAAGCGGCTGCA (p.Ala170=) | |
| 14 | g.24081406G>A | CA257868079 | NRL | c.544C>T (p.Gln182Ter) c.127C>T (p.Gln43Ter) c.643C>T (p.Gln215Ter) c.328C>T (p.Gln110Ter) c.229C>T (p.Gln77Ter) c.850C>T (p.Gln284Ter) c.535C>T (p.Gln179Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081406G>C | CA389277606 | NRL | c.544C>G (p.Gln182Glu) c.127C>G (p.Gln43Glu) c.643C>G (p.Gln215Glu) c.328C>G (p.Gln110Glu) c.229C>G (p.Gln77Glu) c.850C>G (p.Gln284Glu) c.535C>G (p.Gln179Glu) | |
| 14 | g.24081406G= | CA2123777585 | NRL | c.544C= (p.Gln182=) c.127C= (p.Gln43=) c.643C= (p.Gln215=) c.328C= (p.Gln110=) c.229C= (p.Gln77=) c.850C= (p.Gln284=) c.535C= (p.Gln179=) | |
| 14 | g.24081406G>T | CA389277607 | NRL | c.544C>A (p.Gln182Lys) c.127C>A (p.Gln43Lys) c.643C>A (p.Gln215Lys) c.328C>A (p.Gln110Lys) c.229C>A (p.Gln77Lys) c.850C>A (p.Gln284Lys) c.535C>A (p.Gln179Lys) | |
| 14 | g.24081407_24081434del | CA613319062 | NRL | c.517_544del (p.Ala173SerfsTer?) c.100_127del (p.Ala34SerfsTer?) c.616_643del (p.Ala206SerfsTer?) c.301_328del (p.Ala101SerfsTer?) c.202_229del (p.Ala68SerfsTer?) c.823_850del (p.Ala275SerfsTer?) c.508_535del (p.Ala170SerfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081407C>A | CA485775815 | NRL | c.543G>T (p.Leu181=) c.126G>T (p.Leu42=) c.642G>T (p.Leu214=) c.327G>T (p.Leu109=) c.228G>T (p.Leu76=) c.849G>T (p.Leu283=) c.534G>T (p.Leu178=) | |
| 14 | g.24081407C>G | CA485775816 | NRL | c.543G>C (p.Leu181=) c.126G>C (p.Leu42=) c.642G>C (p.Leu214=) c.327G>C (p.Leu109=) c.228G>C (p.Leu76=) c.849G>C (p.Leu283=) c.534G>C (p.Leu178=) | |
| 14 | g.24081407C>T | CA485775817 | NRL | c.543G>A (p.Leu181=) c.126G>A (p.Leu42=) c.642G>A (p.Leu214=) c.327G>A (p.Leu109=) c.228G>A (p.Leu76=) c.849G>A (p.Leu283=) c.534G>A (p.Leu178=) | gnomAD v4 |
| 14 | g.24081408A= | CA2123777593 | NRL | c.542T= (p.Leu181=) c.125T= (p.Leu42=) c.641T= (p.Leu214=) c.326T= (p.Leu109=) c.227T= (p.Leu76=) c.848T= (p.Leu283=) c.533T= (p.Leu178=) | |
| 14 | g.24081408A>C | CA389277608 | NRL | c.542T>G (p.Leu181Arg) c.125T>G (p.Leu42Arg) c.641T>G (p.Leu214Arg) c.326T>G (p.Leu109Arg) c.227T>G (p.Leu76Arg) c.848T>G (p.Leu283Arg) c.533T>G (p.Leu178Arg) | |
| 14 | g.24081408A>G | CA389277609 | NRL | c.542T>C (p.Leu181Pro) c.125T>C (p.Leu42Pro) c.641T>C (p.Leu214Pro) c.326T>C (p.Leu109Pro) c.227T>C (p.Leu76Pro) c.848T>C (p.Leu283Pro) c.533T>C (p.Leu178Pro) | dbSNP gnomAD v4 |
| 14 | g.24081408A>T | CA389277612 | NRL | c.542T>A (p.Leu181Gln) c.125T>A (p.Leu42Gln) c.641T>A (p.Leu214Gln) c.326T>A (p.Leu109Gln) c.227T>A (p.Leu76Gln) c.848T>A (p.Leu283Gln) c.533T>A (p.Leu178Gln) | |
| 14 | g.24081409G>A | CA485775820 | NRL | c.541C>T (p.Leu181=) c.124C>T (p.Leu42=) c.640C>T (p.Leu214=) c.325C>T (p.Leu109=) c.226C>T (p.Leu76=) c.847C>T (p.Leu283=) c.532C>T (p.Leu178=) | |
| 14 | g.24081409G>C | CA389277628 | NRL | c.541C>G (p.Leu181Val) c.124C>G (p.Leu42Val) c.640C>G (p.Leu214Val) c.325C>G (p.Leu109Val) c.226C>G (p.Leu76Val) c.847C>G (p.Leu283Val) c.532C>G (p.Leu178Val) | dbSNP |
| 14 | g.24081409G>T | CA389277635 | NRL | c.541C>A (p.Leu181Met) c.124C>A (p.Leu42Met) c.640C>A (p.Leu214Met) c.325C>A (p.Leu109Met) c.226C>A (p.Leu76Met) c.847C>A (p.Leu283Met) c.532C>A (p.Leu178Met) | |
| 14 | g.24081410C>A | CA485775825 | NRL | c.540G>T (p.Arg180=) c.123G>T (p.Arg41=) c.639G>T (p.Arg213=) c.324G>T (p.Arg108=) c.225G>T (p.Arg75=) c.846G>T (p.Arg282=) c.531G>T (p.Arg177=) | |
| 14 | g.24081410C= | CA2123777599 | NRL | c.540G= (p.Arg180=) c.123G= (p.Arg41=) c.639G= (p.Arg213=) c.324G= (p.Arg108=) c.225G= (p.Arg75=) c.846G= (p.Arg282=) c.531G= (p.Arg177=) | |
| 14 | g.24081410C>G | CA485775826 | NRL | c.540G>C (p.Arg180=) c.123G>C (p.Arg41=) c.639G>C (p.Arg213=) c.324G>C (p.Arg108=) c.225G>C (p.Arg75=) c.846G>C (p.Arg282=) c.531G>C (p.Arg177=) | |
| 14 | g.24081410C>T | CA485775827 | NRL | c.540G>A (p.Arg180=) c.123G>A (p.Arg41=) c.639G>A (p.Arg213=) c.324G>A (p.Arg108=) c.225G>A (p.Arg75=) c.846G>A (p.Arg282=) c.531G>A (p.Arg177=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081410_24081411insG | CA2123777606 | NRL | c.539_540insC (p.Leu181AlafsTer?) c.122_123insC (p.Leu42AlafsTer?) c.638_639insC (p.Leu214AlafsTer?) c.323_324insC (p.Leu109AlafsTer?) c.224_225insC (p.Leu76AlafsTer?) c.845_846insC (p.Leu283AlafsTer?) c.530_531insC (p.Leu178AlafsTer?) | ClinVar dbSNP |
| 14 | g.24081411C>A | CA389277640 | NRL | c.539G>T (p.Arg180Leu) c.122G>T (p.Arg41Leu) c.638G>T (p.Arg213Leu) c.323G>T (p.Arg108Leu) c.224G>T (p.Arg75Leu) c.845G>T (p.Arg282Leu) c.530G>T (p.Arg177Leu) | |
| 14 | g.24081411C= | CA2123777607 | NRL | c.539G= (p.Arg180=) c.122G= (p.Arg41=) c.638G= (p.Arg213=) c.323G= (p.Arg108=) c.224G= (p.Arg75=) c.845G= (p.Arg282=) c.530G= (p.Arg177=) | |
| 14 | g.24081411C>G | CA389277645 | NRL | c.539G>C (p.Arg180Pro) c.122G>C (p.Arg41Pro) c.638G>C (p.Arg213Pro) c.323G>C (p.Arg108Pro) c.224G>C (p.Arg75Pro) c.845G>C (p.Arg282Pro) c.530G>C (p.Arg177Pro) | gnomAD v4 |
| 14 | g.24081411C>T | CA389277662 | NRL | c.539G>A (p.Arg180Gln) c.122G>A (p.Arg41Gln) c.638G>A (p.Arg213Gln) c.323G>A (p.Arg108Gln) c.224G>A (p.Arg75Gln) c.845G>A (p.Arg282Gln) c.530G>A (p.Arg177Gln) | dbSNP |
| 14 | g.24081412G>A | CA257868082 | NRL | c.538C>T (p.Arg180Trp) c.121C>T (p.Arg41Trp) c.637C>T (p.Arg213Trp) c.322C>T (p.Arg108Trp) c.223C>T (p.Arg75Trp) c.844C>T (p.Arg282Trp) c.529C>T (p.Arg177Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081412G>C | CA389277668 | NRL | c.538C>G (p.Arg180Gly) c.121C>G (p.Arg41Gly) c.637C>G (p.Arg213Gly) c.322C>G (p.Arg108Gly) c.223C>G (p.Arg75Gly) c.844C>G (p.Arg282Gly) c.529C>G (p.Arg177Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081412G= | CA2123777612 | NRL | c.538C= (p.Arg180=) c.121C= (p.Arg41=) c.637C= (p.Arg213=) c.322C= (p.Arg108=) c.223C= (p.Arg75=) c.844C= (p.Arg282=) c.529C= (p.Arg177=) | |
| 14 | g.24081412G>T | CA485775833 | NRL | c.538C>A (p.Arg180=) c.121C>A (p.Arg41=) c.637C>A (p.Arg213=) c.322C>A (p.Arg108=) c.223C>A (p.Arg75=) c.844C>A (p.Arg282=) c.529C>A (p.Arg177=) | gnomAD v4 |
| 14 | g.24081412_24081418delinsGCTTGGA | CA2123777611 | NRL | c.532_538delinsTCCAAGC (p.Ser178=) c.115_121delinsTCCAAGC (p.Ser39=) c.631_637delinsTCCAAGC (p.Ser211=) c.316_322delinsTCCAAGC (p.Ser106=) c.217_223delinsTCCAAGC (p.Ser73=) c.838_844delinsTCCAAGC (p.Ser280=) c.523_529delinsTCCAAGC (p.Ser175=) | |
| 14 | g.24081413del | CA2573149789 | NRL | c.537del (p.Lys179AsnfsTer?) c.120del (p.Lys40AsnfsTer?) c.636del (p.Lys212AsnfsTer?) c.321del (p.Lys107AsnfsTer?) c.222del (p.Lys74AsnfsTer?) c.843del (p.Lys281AsnfsTer?) c.528del (p.Lys176AsnfsTer?) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081413C>A | CA389277671 | NRL | c.537G>T (p.Lys179Asn) c.120G>T (p.Lys40Asn) c.636G>T (p.Lys212Asn) c.321G>T (p.Lys107Asn) c.222G>T (p.Lys74Asn) c.843G>T (p.Lys281Asn) c.528G>T (p.Lys176Asn) | gnomAD v4 |
| 14 | g.24081413C>G | CA389277672 | NRL | c.537G>C (p.Lys179Asn) c.120G>C (p.Lys40Asn) c.636G>C (p.Lys212Asn) c.321G>C (p.Lys107Asn) c.222G>C (p.Lys74Asn) c.843G>C (p.Lys281Asn) c.528G>C (p.Lys176Asn) | |
| 14 | g.24081413C>T | CA485775836 | NRL | c.537G>A (p.Lys179=) c.120G>A (p.Lys40=) c.636G>A (p.Lys212=) c.321G>A (p.Lys107=) c.222G>A (p.Lys74=) c.843G>A (p.Lys281=) c.528G>A (p.Lys176=) | gnomAD v4 |
| 14 | g.24081413_24081418del | CA2123777617 | NRL | c.532_537del (p.Ser178_Lys179del) c.115_120del (p.Ser39_Lys40del) c.631_636del (p.Ser211_Lys212del) c.316_321del (p.Ser106_Lys107del) c.217_222del (p.Ser73_Lys74del) c.838_843del (p.Ser280_Lys281del) c.523_528del (p.Ser175_Lys176del) | ClinVar dbSNP |
| 14 | g.24081414T>A | CA389277673 | NRL | c.536A>T (p.Lys179Met) c.119A>T (p.Lys40Met) c.635A>T (p.Lys212Met) c.320A>T (p.Lys107Met) c.221A>T (p.Lys74Met) c.842A>T (p.Lys281Met) c.527A>T (p.Lys176Met) | |
| 14 | g.24081414T>C | CA389277677 | NRL | c.536A>G (p.Lys179Arg) c.119A>G (p.Lys40Arg) c.635A>G (p.Lys212Arg) c.320A>G (p.Lys107Arg) c.221A>G (p.Lys74Arg) c.842A>G (p.Lys281Arg) c.527A>G (p.Lys176Arg) | |
| 14 | g.24081414T>G | CA389277681 | NRL | c.536A>C (p.Lys179Thr) c.119A>C (p.Lys40Thr) c.635A>C (p.Lys212Thr) c.320A>C (p.Lys107Thr) c.221A>C (p.Lys74Thr) c.842A>C (p.Lys281Thr) c.527A>C (p.Lys176Thr) | |
| 14 | g.24081415T>A | CA389277686 | NRL | c.535A>T (p.Lys179Ter) c.118A>T (p.Lys40Ter) c.634A>T (p.Lys212Ter) c.319A>T (p.Lys107Ter) c.220A>T (p.Lys74Ter) c.841A>T (p.Lys281Ter) c.526A>T (p.Lys176Ter) | |
| 14 | g.24081415T>C | CA389277692 | NRL | c.535A>G (p.Lys179Glu) c.118A>G (p.Lys40Glu) c.634A>G (p.Lys212Glu) c.319A>G (p.Lys107Glu) c.220A>G (p.Lys74Glu) c.841A>G (p.Lys281Glu) c.526A>G (p.Lys176Glu) | gnomAD v4 |
| 14 | g.24081415T>G | CA389277697 | NRL | c.535A>C (p.Lys179Gln) c.118A>C (p.Lys40Gln) c.634A>C (p.Lys212Gln) c.319A>C (p.Lys107Gln) c.220A>C (p.Lys74Gln) c.841A>C (p.Lys281Gln) c.526A>C (p.Lys176Gln) | ClinVar gnomAD v4 |
| 14 | g.24081416G>A | CA485775837 | NRL | c.534C>T (p.Ser178=) c.117C>T (p.Ser39=) c.633C>T (p.Ser211=) c.318C>T (p.Ser106=) c.219C>T (p.Ser73=) c.840C>T (p.Ser280=) c.525C>T (p.Ser175=) | dbSNP |
| 14 | g.24081416G>C | CA485775838 | NRL | c.534C>G (p.Ser178=) c.117C>G (p.Ser39=) c.633C>G (p.Ser211=) c.318C>G (p.Ser106=) c.219C>G (p.Ser73=) c.840C>G (p.Ser280=) c.525C>G (p.Ser175=) | |
| 14 | g.24081416G>T | CA485775839 | NRL | c.534C>A (p.Ser178=) c.117C>A (p.Ser39=) c.633C>A (p.Ser211=) c.318C>A (p.Ser106=) c.219C>A (p.Ser73=) c.840C>A (p.Ser280=) c.525C>A (p.Ser175=) | |
| 14 | g.24081417G>A | CA389277730 | NRL | c.533C>T (p.Ser178Phe) c.116C>T (p.Ser39Phe) c.632C>T (p.Ser211Phe) c.317C>T (p.Ser106Phe) c.218C>T (p.Ser73Phe) c.839C>T (p.Ser280Phe) c.524C>T (p.Ser175Phe) | |
| 14 | g.24081417G>C | CA389277709 | NRL | c.533C>G (p.Ser178Cys) c.116C>G (p.Ser39Cys) c.632C>G (p.Ser211Cys) c.317C>G (p.Ser106Cys) c.218C>G (p.Ser73Cys) c.839C>G (p.Ser280Cys) c.524C>G (p.Ser175Cys) | gnomAD v4 |
| 14 | g.24081417G>T | CA389277713 | NRL | c.533C>A (p.Ser178Tyr) c.116C>A (p.Ser39Tyr) c.632C>A (p.Ser211Tyr) c.317C>A (p.Ser106Tyr) c.218C>A (p.Ser73Tyr) c.839C>A (p.Ser280Tyr) c.524C>A (p.Ser175Tyr) | |
| 14 | g.24081418A>C | CA389277736 | NRL | c.532T>G (p.Ser178Ala) c.115T>G (p.Ser39Ala) c.631T>G (p.Ser211Ala) c.316T>G (p.Ser106Ala) c.217T>G (p.Ser73Ala) c.838T>G (p.Ser280Ala) c.523T>G (p.Ser175Ala) | |
| 14 | g.24081418A>G | CA389277738 | NRL | c.532T>C (p.Ser178Pro) c.115T>C (p.Ser39Pro) c.631T>C (p.Ser211Pro) c.316T>C (p.Ser106Pro) c.217T>C (p.Ser73Pro) c.838T>C (p.Ser280Pro) c.523T>C (p.Ser175Pro) | gnomAD v4 |
| 14 | g.24081418A>T | CA389277740 | NRL | c.532T>A (p.Ser178Thr) c.115T>A (p.Ser39Thr) c.631T>A (p.Ser211Thr) c.316T>A (p.Ser106Thr) c.217T>A (p.Ser73Thr) c.838T>A (p.Ser280Thr) c.523T>A (p.Ser175Thr) | |
| 14 | g.24081419G>A | CA485775847 | NRL | c.531C>T (p.Arg177=) c.114C>T (p.Arg38=) c.630C>T (p.Arg210=) c.315C>T (p.Arg105=) c.216C>T (p.Arg72=) c.837C>T (p.Arg279=) c.522C>T (p.Arg174=) | |
| 14 | g.24081419G>C | CA485775848 | NRL | c.531C>G (p.Arg177=) c.114C>G (p.Arg38=) c.630C>G (p.Arg210=) c.315C>G (p.Arg105=) c.216C>G (p.Arg72=) c.837C>G (p.Arg279=) c.522C>G (p.Arg174=) | |
| 14 | g.24081419G= | CA2123777621 | NRL | c.531C= (p.Arg177=) c.114C= (p.Arg38=) c.630C= (p.Arg210=) c.315C= (p.Arg105=) c.216C= (p.Arg72=) c.837C= (p.Arg279=) c.522C= (p.Arg174=) | |
| 14 | g.24081419G>T | CA257868086 | NRL | c.531C>A (p.Arg177=) c.114C>A (p.Arg38=) c.630C>A (p.Arg210=) c.315C>A (p.Arg105=) c.216C>A (p.Arg72=) c.837C>A (p.Arg279=) c.522C>A (p.Arg174=) | dbSNP |
| 14 | g.24081420C>A | CA389277747 | NRL | c.530G>T (p.Arg177Leu) c.113G>T (p.Arg38Leu) c.629G>T (p.Arg210Leu) c.314G>T (p.Arg105Leu) c.215G>T (p.Arg72Leu) c.836G>T (p.Arg279Leu) c.521G>T (p.Arg174Leu) | gnomAD v4 |
| 14 | g.24081420C>G | CA389277772 | NRL | c.530G>C (p.Arg177Pro) c.113G>C (p.Arg38Pro) c.629G>C (p.Arg210Pro) c.314G>C (p.Arg105Pro) c.215G>C (p.Arg72Pro) c.836G>C (p.Arg279Pro) c.521G>C (p.Arg174Pro) | |
| 14 | g.24081420C>T | CA389277774 | NRL | c.530G>A (p.Arg177His) c.113G>A (p.Arg38His) c.629G>A (p.Arg210His) c.314G>A (p.Arg105His) c.215G>A (p.Arg72His) c.836G>A (p.Arg279His) c.521G>A (p.Arg174His) | |
| 14 | g.24081421G>A | CA389277779 | NRL | c.529C>T (p.Arg177Cys) c.112C>T (p.Arg38Cys) c.628C>T (p.Arg210Cys) c.313C>T (p.Arg105Cys) c.214C>T (p.Arg72Cys) c.835C>T (p.Arg279Cys) c.520C>T (p.Arg174Cys) | |
| 14 | g.24081421G>C | CA389277780 | NRL | c.529C>G (p.Arg177Gly) c.112C>G (p.Arg38Gly) c.628C>G (p.Arg210Gly) c.313C>G (p.Arg105Gly) c.214C>G (p.Arg72Gly) c.835C>G (p.Arg279Gly) c.520C>G (p.Arg174Gly) | |
| 14 | g.24081421G>T | CA389277781 | NRL | c.529C>A (p.Arg177Ser) c.112C>A (p.Arg38Ser) c.628C>A (p.Arg210Ser) c.313C>A (p.Arg105Ser) c.214C>A (p.Arg72Ser) c.835C>A (p.Arg279Ser) c.520C>A (p.Arg174Ser) | gnomAD v4 |
| 14 | g.24081422A>C | CA389277782 | NRL | c.528T>G (p.Cys176Trp) c.111T>G (p.Cys37Trp) c.627T>G (p.Cys209Trp) c.312T>G (p.Cys104Trp) c.213T>G (p.Cys71Trp) c.834T>G (p.Cys278Trp) c.519T>G (p.Cys173Trp) | |
| 14 | g.24081422A>G | CA485775853 | NRL | c.528T>C (p.Cys176=) c.111T>C (p.Cys37=) c.627T>C (p.Cys209=) c.312T>C (p.Cys104=) c.213T>C (p.Cys71=) c.834T>C (p.Cys278=) c.519T>C (p.Cys173=) | |
| 14 | g.24081422A>T | CA389277783 | NRL | c.528T>A (p.Cys176Ter) c.111T>A (p.Cys37Ter) c.627T>A (p.Cys209Ter) c.312T>A (p.Cys104Ter) c.213T>A (p.Cys71Ter) c.834T>A (p.Cys278Ter) c.519T>A (p.Cys173Ter) | gnomAD v4 |
| 14 | g.24081423C>A | CA389277794 | NRL | c.527G>T (p.Cys176Phe) c.110G>T (p.Cys37Phe) c.626G>T (p.Cys209Phe) c.311G>T (p.Cys104Phe) c.212G>T (p.Cys71Phe) c.833G>T (p.Cys278Phe) c.518G>T (p.Cys173Phe) | |
| 14 | g.24081423C= | CA2123777625 | NRL | c.527G= (p.Cys176=) c.110G= (p.Cys37=) c.626G= (p.Cys209=) c.311G= (p.Cys104=) c.212G= (p.Cys71=) c.833G= (p.Cys278=) c.518G= (p.Cys173=) | |
| 14 | g.24081423C>G | CA389277789 | NRL | c.527G>C (p.Cys176Ser) c.110G>C (p.Cys37Ser) c.626G>C (p.Cys209Ser) c.311G>C (p.Cys104Ser) c.212G>C (p.Cys71Ser) c.833G>C (p.Cys278Ser) c.518G>C (p.Cys173Ser) | |
| 14 | g.24081423C>T | CA389277785 | NRL | c.527G>A (p.Cys176Tyr) c.110G>A (p.Cys37Tyr) c.626G>A (p.Cys209Tyr) c.311G>A (p.Cys104Tyr) c.212G>A (p.Cys71Tyr) c.833G>A (p.Cys278Tyr) c.518G>A (p.Cys173Tyr) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081424A>C | CA389277800 | NRL | c.526T>G (p.Cys176Gly) c.109T>G (p.Cys37Gly) c.625T>G (p.Cys209Gly) c.310T>G (p.Cys104Gly) c.211T>G (p.Cys71Gly) c.832T>G (p.Cys278Gly) c.517T>G (p.Cys173Gly) | |
| 14 | g.24081424A>G | CA389277808 | NRL | c.526T>C (p.Cys176Arg) c.109T>C (p.Cys37Arg) c.625T>C (p.Cys209Arg) c.310T>C (p.Cys104Arg) c.211T>C (p.Cys71Arg) c.832T>C (p.Cys278Arg) c.517T>C (p.Cys173Arg) | gnomAD v4 |
| 14 | g.24081424A>T | CA389277804 | NRL | c.526T>A (p.Cys176Ser) c.109T>A (p.Cys37Ser) c.625T>A (p.Cys209Ser) c.310T>A (p.Cys104Ser) c.211T>A (p.Cys71Ser) c.832T>A (p.Cys278Ser) c.517T>A (p.Cys173Ser) | |
| 14 | g.24081425G>A | CA485775857 | NRL | c.525C>T (p.Ala175=) c.108C>T (p.Ala36=) c.624C>T (p.Ala208=) c.309C>T (p.Ala103=) c.210C>T (p.Ala70=) c.831C>T (p.Ala277=) c.516C>T (p.Ala172=) | gnomAD v4 |
| 14 | g.24081425G>C | CA485775858 | NRL | c.525C>G (p.Ala175=) c.108C>G (p.Ala36=) c.624C>G (p.Ala208=) c.309C>G (p.Ala103=) c.210C>G (p.Ala70=) c.831C>G (p.Ala277=) c.516C>G (p.Ala172=) | |
| 14 | g.24081425G>T | CA485775859 | NRL | c.525C>A (p.Ala175=) c.108C>A (p.Ala36=) c.624C>A (p.Ala208=) c.309C>A (p.Ala103=) c.210C>A (p.Ala70=) c.831C>A (p.Ala277=) c.516C>A (p.Ala172=) | dbSNP |
| 14 | g.24081426G>A | CA389277819 | NRL | c.524C>T (p.Ala175Val) c.107C>T (p.Ala36Val) c.623C>T (p.Ala208Val) c.308C>T (p.Ala103Val) c.209C>T (p.Ala70Val) c.830C>T (p.Ala277Val) c.515C>T (p.Ala172Val) | dbSNP gnomAD v4 |
| 14 | g.24081426G>C | CA389277840 | NRL | c.524C>G (p.Ala175Gly) c.107C>G (p.Ala36Gly) c.623C>G (p.Ala208Gly) c.308C>G (p.Ala103Gly) c.209C>G (p.Ala70Gly) c.830C>G (p.Ala277Gly) c.515C>G (p.Ala172Gly) | |
| 14 | g.24081426G= | CA2123777634 | NRL | c.524C= (p.Ala175=) c.107C= (p.Ala36=) c.623C= (p.Ala208=) c.308C= (p.Ala103=) c.209C= (p.Ala70=) c.830C= (p.Ala277=) c.515C= (p.Ala172=) | |
| 14 | g.24081426G>T | CA389277823 | NRL | c.524C>A (p.Ala175Asp) c.107C>A (p.Ala36Asp) c.623C>A (p.Ala208Asp) c.308C>A (p.Ala103Asp) c.209C>A (p.Ala70Asp) c.830C>A (p.Ala277Asp) c.515C>A (p.Ala172Asp) | gnomAD v4 |
| 14 | g.24081426_24081427insT | CA2624298439 | NRL | c.523_524insA (p.Ala175AspfsTer?) c.106_107insA (p.Ala36AspfsTer?) c.622_623insA (p.Ala208AspfsTer?) c.307_308insA (p.Ala103AspfsTer?) c.208_209insA (p.Ala70AspfsTer?) c.829_830insA (p.Ala277AspfsTer?) c.514_515insA (p.Ala172AspfsTer?) | gnomAD v4 |
| 14 | g.24081427C>A | CA389277847 | NRL | c.523G>T (p.Ala175Ser) c.106G>T (p.Ala36Ser) c.622G>T (p.Ala208Ser) c.307G>T (p.Ala103Ser) c.208G>T (p.Ala70Ser) c.829G>T (p.Ala277Ser) c.514G>T (p.Ala172Ser) | |
| 14 | g.24081427C>G | CA389277857 | NRL | c.523G>C (p.Ala175Pro) c.106G>C (p.Ala36Pro) c.622G>C (p.Ala208Pro) c.307G>C (p.Ala103Pro) c.208G>C (p.Ala70Pro) c.829G>C (p.Ala277Pro) c.514G>C (p.Ala172Pro) | |
| 14 | g.24081427C>T | CA389277850 | NRL | c.523G>A (p.Ala175Thr) c.106G>A (p.Ala36Thr) c.622G>A (p.Ala208Thr) c.307G>A (p.Ala103Thr) c.208G>A (p.Ala70Thr) c.829G>A (p.Ala277Thr) c.514G>A (p.Ala172Thr) | |
| 14 | g.24081428C>A | CA389277859 | NRL | c.522G>T (p.Gln174His) c.105G>T (p.Gln35His) c.621G>T (p.Gln207His) c.306G>T (p.Gln102His) c.207G>T (p.Gln69His) c.828G>T (p.Gln276His) c.513G>T (p.Gln171His) | |
| 14 | g.24081428C>G | CA389277862 | NRL | c.522G>C (p.Gln174His) c.105G>C (p.Gln35His) c.621G>C (p.Gln207His) c.306G>C (p.Gln102His) c.207G>C (p.Gln69His) c.828G>C (p.Gln276His) c.513G>C (p.Gln171His) | dbSNP |
| 14 | g.24081428C>T | CA485775865 | NRL | c.522G>A (p.Gln174=) c.105G>A (p.Gln35=) c.621G>A (p.Gln207=) c.306G>A (p.Gln102=) c.207G>A (p.Gln69=) c.828G>A (p.Gln276=) c.513G>A (p.Gln171=) | |
| 14 | g.24081429T>A | CA389277866 | NRL | c.521A>T (p.Gln174Leu) c.104A>T (p.Gln35Leu) c.620A>T (p.Gln207Leu) c.305A>T (p.Gln102Leu) c.206A>T (p.Gln69Leu) c.827A>T (p.Gln276Leu) c.512A>T (p.Gln171Leu) | |
| 14 | g.24081429T>C | CA257868087 | NRL | c.521A>G (p.Gln174Arg) c.104A>G (p.Gln35Arg) c.620A>G (p.Gln207Arg) c.305A>G (p.Gln102Arg) c.206A>G (p.Gln69Arg) c.827A>G (p.Gln276Arg) c.512A>G (p.Gln171Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081429T>G | CA389277880 | NRL | c.521A>C (p.Gln174Pro) c.104A>C (p.Gln35Pro) c.620A>C (p.Gln207Pro) c.305A>C (p.Gln102Pro) c.206A>C (p.Gln69Pro) c.827A>C (p.Gln276Pro) c.512A>C (p.Gln171Pro) | |
| 14 | g.24081429T= | CA2123777644 | NRL | c.521A= (p.Gln174=) c.104A= (p.Gln35=) c.620A= (p.Gln207=) c.305A= (p.Gln102=) c.206A= (p.Gln69=) c.827A= (p.Gln276=) c.512A= (p.Gln171=) | |
| 14 | g.24081429_24081439delinsTGCGCGTAGCC | CA2123777647 | NRL | c.511_521delinsGGCTACGCGCA (p.Gly171=) c.94_104delinsGGCTACGCGCA (p.Gly32=) c.610_620delinsGGCTACGCGCA (p.Gly204=) c.295_305delinsGGCTACGCGCA (p.Gly99=) c.196_206delinsGGCTACGCGCA (p.Gly66=) c.817_827delinsGGCTACGCGCA (p.Gly273=) c.502_512delinsGGCTACGCGCA (p.Gly168=) | |
| 14 | g.24081430G>A | CA389277885 | NRL | c.520C>T (p.Gln174Ter) c.103C>T (p.Gln35Ter) c.619C>T (p.Gln207Ter) c.304C>T (p.Gln102Ter) c.205C>T (p.Gln69Ter) c.826C>T (p.Gln276Ter) c.511C>T (p.Gln171Ter) | dbSNP |
| 14 | g.24081430G>C | CA389277888 | NRL | c.520C>G (p.Gln174Glu) c.103C>G (p.Gln35Glu) c.619C>G (p.Gln207Glu) c.304C>G (p.Gln102Glu) c.205C>G (p.Gln69Glu) c.826C>G (p.Gln276Glu) c.511C>G (p.Gln171Glu) | |
| 14 | g.24081430G= | CA2123777654 | NRL | c.520C= (p.Gln174=) c.103C= (p.Gln35=) c.619C= (p.Gln207=) c.304C= (p.Gln102=) c.205C= (p.Gln69=) c.826C= (p.Gln276=) c.511C= (p.Gln171=) | |
| 14 | g.24081430G>T | CA389277894 | NRL | c.520C>A (p.Gln174Lys) c.103C>A (p.Gln35Lys) c.619C>A (p.Gln207Lys) c.304C>A (p.Gln102Lys) c.205C>A (p.Gln69Lys) c.826C>A (p.Gln276Lys) c.511C>A (p.Gln171Lys) | |
| 14 | g.24081433_24081442del | CA613319063 | NRL | c.511_520del (p.Gly171ArgfsTer?) c.94_103del (p.Gly32ArgfsTer?) c.610_619del (p.Gly204ArgfsTer?) c.295_304del (p.Gly99ArgfsTer?) c.196_205del (p.Gly66ArgfsTer?) c.817_826del (p.Gly273ArgfsTer?) c.502_511del (p.Gly168ArgfsTer?) | dbSNP gnomAD v2 |
| 14 | g.24081431C>A | CA485775869 | NRL | c.519G>T (p.Ala173=) c.102G>T (p.Ala34=) c.618G>T (p.Ala206=) c.303G>T (p.Ala101=) c.204G>T (p.Ala68=) c.825G>T (p.Ala275=) c.510G>T (p.Ala170=) | |
| 14 | g.24081431C= | CA2123777660 | NRL | c.519G= (p.Ala173=) c.102G= (p.Ala34=) c.618G= (p.Ala206=) c.303G= (p.Ala101=) c.204G= (p.Ala68=) c.825G= (p.Ala275=) c.510G= (p.Ala170=) | |
| 14 | g.24081431C>G | CA485775870 | NRL | c.519G>C (p.Ala173=) c.102G>C (p.Ala34=) c.618G>C (p.Ala206=) c.303G>C (p.Ala101=) c.204G>C (p.Ala68=) c.825G>C (p.Ala275=) c.510G>C (p.Ala170=) | |
| 14 | g.24081431C>T | CA485775871 | NRL | c.519G>A (p.Ala173=) c.102G>A (p.Ala34=) c.618G>A (p.Ala206=) c.303G>A (p.Ala101=) c.204G>A (p.Ala68=) c.825G>A (p.Ala275=) c.510G>A (p.Ala170=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081432G>A | CA389277898 | NRL | c.518C>T (p.Ala173Val) c.101C>T (p.Ala34Val) c.617C>T (p.Ala206Val) c.302C>T (p.Ala101Val) c.203C>T (p.Ala68Val) c.824C>T (p.Ala275Val) c.509C>T (p.Ala170Val) | ClinVar gnomAD v4 |
| 14 | g.24081432G>C | CA389277900 | NRL | c.518C>G (p.Ala173Gly) c.101C>G (p.Ala34Gly) c.617C>G (p.Ala206Gly) c.302C>G (p.Ala101Gly) c.203C>G (p.Ala68Gly) c.824C>G (p.Ala275Gly) c.509C>G (p.Ala170Gly) | |
| 14 | g.24081432G>T | CA389277904 | NRL | c.518C>A (p.Ala173Glu) c.101C>A (p.Ala34Glu) c.617C>A (p.Ala206Glu) c.302C>A (p.Ala101Glu) c.203C>A (p.Ala68Glu) c.824C>A (p.Ala275Glu) c.509C>A (p.Ala170Glu) | |
| 14 | g.24081433C>A | CA389277907 | NRL | c.517G>T (p.Ala173Ser) c.100G>T (p.Ala34Ser) c.616G>T (p.Ala206Ser) c.301G>T (p.Ala101Ser) c.202G>T (p.Ala68Ser) c.823G>T (p.Ala275Ser) c.508G>T (p.Ala170Ser) | |
| 14 | g.24081433C= | CA2123777661 | NRL | c.517G= (p.Ala173=) c.100G= (p.Ala34=) c.616G= (p.Ala206=) c.301G= (p.Ala101=) c.202G= (p.Ala68=) c.823G= (p.Ala275=) c.508G= (p.Ala170=) | |
| 14 | g.24081433C>G | CA389277912 | NRL | c.517G>C (p.Ala173Pro) c.100G>C (p.Ala34Pro) c.616G>C (p.Ala206Pro) c.301G>C (p.Ala101Pro) c.202G>C (p.Ala68Pro) c.823G>C (p.Ala275Pro) c.508G>C (p.Ala170Pro) | gnomAD v4 |
| 14 | g.24081433C>T | CA389277909 | NRL | c.517G>A (p.Ala173Thr) c.100G>A (p.Ala34Thr) c.616G>A (p.Ala206Thr) c.301G>A (p.Ala101Thr) c.202G>A (p.Ala68Thr) c.823G>A (p.Ala275Thr) c.508G>A (p.Ala170Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081434G>A | CA7122822 | NRL | c.516C>T (p.Tyr172=) c.99C>T (p.Tyr33=) c.615C>T (p.Tyr205=) c.300C>T (p.Tyr100=) c.201C>T (p.Tyr67=) c.822C>T (p.Tyr274=) c.507C>T (p.Tyr169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081434G>C | CA389277920 | NRL | c.516C>G (p.Tyr172Ter) c.99C>G (p.Tyr33Ter) c.615C>G (p.Tyr205Ter) c.300C>G (p.Tyr100Ter) c.201C>G (p.Tyr67Ter) c.822C>G (p.Tyr274Ter) c.507C>G (p.Tyr169Ter) | gnomAD v4 |
| 14 | g.24081434G= | CA2123777664 | NRL | c.516C= (p.Tyr172=) c.99C= (p.Tyr33=) c.615C= (p.Tyr205=) c.300C= (p.Tyr100=) c.201C= (p.Tyr67=) c.822C= (p.Tyr274=) c.507C= (p.Tyr169=) | |
| 14 | g.24081434G>T | CA389277923 | NRL | c.516C>A (p.Tyr172Ter) c.99C>A (p.Tyr33Ter) c.615C>A (p.Tyr205Ter) c.300C>A (p.Tyr100Ter) c.201C>A (p.Tyr67Ter) c.822C>A (p.Tyr274Ter) c.507C>A (p.Tyr169Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081435T>A | CA389277925 | NRL | c.515A>T (p.Tyr172Phe) c.98A>T (p.Tyr33Phe) c.614A>T (p.Tyr205Phe) c.299A>T (p.Tyr100Phe) c.200A>T (p.Tyr67Phe) c.821A>T (p.Tyr274Phe) c.506A>T (p.Tyr169Phe) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081435T>C | CA389277926 | NRL | c.515A>G (p.Tyr172Cys) c.98A>G (p.Tyr33Cys) c.614A>G (p.Tyr205Cys) c.299A>G (p.Tyr100Cys) c.200A>G (p.Tyr67Cys) c.821A>G (p.Tyr274Cys) c.506A>G (p.Tyr169Cys) | gnomAD v4 |
| 14 | g.24081435T>G | CA389277928 | NRL | c.515A>C (p.Tyr172Ser) c.98A>C (p.Tyr33Ser) c.614A>C (p.Tyr205Ser) c.299A>C (p.Tyr100Ser) c.200A>C (p.Tyr67Ser) c.821A>C (p.Tyr274Ser) c.506A>C (p.Tyr169Ser) | |
| 14 | g.24081435T= | CA2123777674 | NRL | c.515A= (p.Tyr172=) c.98A= (p.Tyr33=) c.614A= (p.Tyr205=) c.299A= (p.Tyr100=) c.200A= (p.Tyr67=) c.821A= (p.Tyr274=) c.506A= (p.Tyr169=) | |
| 14 | g.24081436A= | CA2123777680 | NRL | c.514T= (p.Tyr172=) c.97T= (p.Tyr33=) c.613T= (p.Tyr205=) c.298T= (p.Tyr100=) c.199T= (p.Tyr67=) c.820T= (p.Tyr274=) c.505T= (p.Tyr169=) | |
| 14 | g.24081436A>C | CA389277931 | NRL | c.514T>G (p.Tyr172Asp) c.97T>G (p.Tyr33Asp) c.613T>G (p.Tyr205Asp) c.298T>G (p.Tyr100Asp) c.199T>G (p.Tyr67Asp) c.820T>G (p.Tyr274Asp) c.505T>G (p.Tyr169Asp) | |
| 14 | g.24081436A>G | CA257868088 | NRL | c.514T>C (p.Tyr172His) c.97T>C (p.Tyr33His) c.613T>C (p.Tyr205His) c.298T>C (p.Tyr100His) c.199T>C (p.Tyr67His) c.820T>C (p.Tyr274His) c.505T>C (p.Tyr169His) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081436A>T | CA389277959 | NRL | c.514T>A (p.Tyr172Asn) c.97T>A (p.Tyr33Asn) c.613T>A (p.Tyr205Asn) c.298T>A (p.Tyr100Asn) c.199T>A (p.Tyr67Asn) c.820T>A (p.Tyr274Asn) c.505T>A (p.Tyr169Asn) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081436_24081438del | CA2624298494 | NRL | c.512_514del (p.Gly171_Tyr172delinsAsp) c.95_97del (p.Gly32_Tyr33delinsAsp) c.611_613del (p.Gly204_Tyr205delinsAsp) c.296_298del (p.Gly99_Tyr100delinsAsp) c.197_199del (p.Gly66_Tyr67delinsAsp) c.818_820del (p.Gly273_Tyr274delinsAsp) c.503_505del (p.Gly168_Tyr169delinsAsp) | gnomAD v4 |
| 14 | g.24081437G>A | CA485775883 | NRL | c.513C>T (p.Gly171=) c.96C>T (p.Gly32=) c.612C>T (p.Gly204=) c.297C>T (p.Gly99=) c.198C>T (p.Gly66=) c.819C>T (p.Gly273=) c.504C>T (p.Gly168=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081437G>C | CA485775884 | NRL | c.513C>G (p.Gly171=) c.96C>G (p.Gly32=) c.612C>G (p.Gly204=) c.297C>G (p.Gly99=) c.198C>G (p.Gly66=) c.819C>G (p.Gly273=) c.504C>G (p.Gly168=) | |
| 14 | g.24081437G= | CA2123777688 | NRL | c.513C= (p.Gly171=) c.96C= (p.Gly32=) c.612C= (p.Gly204=) c.297C= (p.Gly99=) c.198C= (p.Gly66=) c.819C= (p.Gly273=) c.504C= (p.Gly168=) | |
| 14 | g.24081437G>T | CA485775885 | NRL | c.513C>A (p.Gly171=) c.96C>A (p.Gly32=) c.612C>A (p.Gly204=) c.297C>A (p.Gly99=) c.198C>A (p.Gly66=) c.819C>A (p.Gly273=) c.504C>A (p.Gly168=) | gnomAD v4 |
| 14 | g.24081438C>A | CA389277980 | NRL | c.512G>T (p.Gly171Val) c.95G>T (p.Gly32Val) c.611G>T (p.Gly204Val) c.296G>T (p.Gly99Val) c.197G>T (p.Gly66Val) c.818G>T (p.Gly273Val) c.503G>T (p.Gly168Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.24081438C= | CA2123777690 | NRL | c.512G= (p.Gly171=) c.95G= (p.Gly32=) c.611G= (p.Gly204=) c.296G= (p.Gly99=) c.197G= (p.Gly66=) c.818G= (p.Gly273=) c.503G= (p.Gly168=) | |
| 14 | g.24081438C>G | CA389277984 | NRL | c.512G>C (p.Gly171Ala) c.95G>C (p.Gly32Ala) c.611G>C (p.Gly204Ala) c.296G>C (p.Gly99Ala) c.197G>C (p.Gly66Ala) c.818G>C (p.Gly273Ala) c.503G>C (p.Gly168Ala) | |
| 14 | g.24081438C>T | CA389277968 | NRL | c.512G>A (p.Gly171Asp) c.95G>A (p.Gly32Asp) c.611G>A (p.Gly204Asp) c.296G>A (p.Gly99Asp) c.197G>A (p.Gly66Asp) c.818G>A (p.Gly273Asp) c.503G>A (p.Gly168Asp) | |
| 14 | g.24081439C>A | CA389277986 | NRL | c.511G>T (p.Gly171Cys) c.94G>T (p.Gly32Cys) c.610G>T (p.Gly204Cys) c.295G>T (p.Gly99Cys) c.196G>T (p.Gly66Cys) c.817G>T (p.Gly273Cys) c.502G>T (p.Gly168Cys) | |
| 14 | g.24081439C= | CA2123777695 | NRL | c.511G= (p.Gly171=) c.94G= (p.Gly32=) c.610G= (p.Gly204=) c.295G= (p.Gly99=) c.196G= (p.Gly66=) c.817G= (p.Gly273=) c.502G= (p.Gly168=) | |
| 14 | g.24081439C>G | CA389277988 | NRL | c.511G>C (p.Gly171Arg) c.94G>C (p.Gly32Arg) c.610G>C (p.Gly204Arg) c.295G>C (p.Gly99Arg) c.196G>C (p.Gly66Arg) c.817G>C (p.Gly273Arg) c.502G>C (p.Gly168Arg) | |
| 14 | g.24081439C>T | CA389277990 | NRL | c.511G>A (p.Gly171Ser) c.94G>A (p.Gly32Ser) c.610G>A (p.Gly204Ser) c.295G>A (p.Gly99Ser) c.196G>A (p.Gly66Ser) c.817G>A (p.Gly273Ser) c.502G>A (p.Gly168Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081440G>A | CA485775887 | NRL | c.510C>T (p.Arg170=) c.93C>T (p.Arg31=) c.609C>T (p.Arg203=) c.294C>T (p.Arg98=) c.195C>T (p.Arg65=) c.816C>T (p.Arg272=) c.501C>T (p.Arg167=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081440G>C | CA485775889 | NRL | c.510C>G (p.Arg170=) c.93C>G (p.Arg31=) c.609C>G (p.Arg203=) c.294C>G (p.Arg98=) c.195C>G (p.Arg65=) c.816C>G (p.Arg272=) c.501C>G (p.Arg167=) | |
| 14 | g.24081440G= | CA2123777698 | NRL | c.510C= (p.Arg170=) c.93C= (p.Arg31=) c.609C= (p.Arg203=) c.294C= (p.Arg98=) c.195C= (p.Arg65=) c.816C= (p.Arg272=) c.501C= (p.Arg167=) | |
| 14 | g.24081440G>T | CA485775891 | NRL | c.510C>A (p.Arg170=) c.93C>A (p.Arg31=) c.609C>A (p.Arg203=) c.294C>A (p.Arg98=) c.195C>A (p.Arg65=) c.816C>A (p.Arg272=) c.501C>A (p.Arg167=) |